Variant report

Variant	nsv883284
Chromosome Location	chr5:179220638-179246415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3031)
CpG islands
(count:3420)
Chromatin interactive
region (count:82)
LncRNA
region (count:12)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:3031 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:179245825-179246612	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179246045-179246245	K562	blood:	n/a	n/a
5	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
8	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
9	ATF1	chr5:179245838-179246287	K562	blood:	n/a	n/a
10	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:179245831-179246319	GM12878	blood:	n/a	n/a
13	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:179245665-179246382	GM12878	blood:	n/a	n/a
15	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
16	ATF2	chr5:179245799-179246272	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr5:179245811-179246235	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr5:179245955-179246291	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr5:179245969-179246270	GM12878	blood:	n/a	n/a
20	ATF3	chr5:179245922-179246268	K562	blood:	n/a	n/a
21	ATF3	chr5:179245797-179246410	A549	lung:	n/a	chr5:179246322-179246331
22	ATF3	chr5:179245934-179246278	HepG2	liver:	n/a	n/a
23	ATF3	chr5:179245828-179246363	A549	lung:	n/a	chr5:179246322-179246331
24	ATF3	chr5:179245937-179246285	K562	blood:	n/a	n/a
25	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
26	ATF3	chr5:179245824-179246291	GM12878	blood:	n/a	n/a
27	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
28	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
29	BACH1	chr5:179245903-179247768	K562	blood:	n/a	chr5:179247551-179247565 chr5:179246583-179246597
30	BACH1	chr5:179245117-179245247	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr5:179243959-179244449	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr5:179228855-179229127	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr5:179233933-179234497	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr5:179245605-179248095	H1-hESC	embryonic stem cell:	n/a	chr5:179247551-179247565 chr5:179246583-179246597
35	BACH1	chr5:179222270-179223747	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr5:179246404-179246690	GM12878	blood:	n/a	n/a
37	BATF	chr5:179245901-179246284	GM12878	blood:	n/a	n/a
38	BCL11A	chr5:179245994-179246274	GM12878	blood:	n/a	chr5:179246136-179246145 chr5:179246140-179246153 chr5:179246224-179246237 chr5:179246174-179246183
39	BCL11A	chr5:179245933-179246296	GM12878	blood:	n/a	chr5:179246136-179246145 chr5:179246140-179246153 chr5:179246224-179246237 chr5:179246174-179246183
40	BCL3	chr5:179243870-179244412	GM12878	blood:	n/a	chr5:179243909-179243918 chr5:179243948-179243961
41	BCL3	chr5:179234933-179235488	A549	lung:	n/a	n/a
42	BCL3	chr5:179223054-179224057	A549	lung:	n/a	chr5:179223789-179223798 chr5:179223959-179223972
43	BCL3	chr5:179245033-179248254	A549	lung:	n/a	chr5:179248153-179248166 chr5:179246322-179246335 chr5:179248150-179248163 chr5:179246136-179246145 chr5:179245888-179245901 chr5:179246140-179246153 chr5:179245784-179245793 chr5:179248191-179248204 chr5:179246224-179246237 chr5:179246174-179246183 chr5:179248158-179248167
44	BCL3	chr5:179228161-179228577	GM12878	blood:	n/a	n/a
45	BCL3	chr5:179223068-179223847	A549	lung:	n/a	chr5:179223789-179223798
46	BCL3	chr5:179245768-179246311	GM12878	blood:	n/a	chr5:179246136-179246145 chr5:179245888-179245901 chr5:179246140-179246153 chr5:179245784-179245793 chr5:179246224-179246237 chr5:179246174-179246183
47	BCL3	chr5:179222480-179223805	GM12878	blood:	n/a	chr5:179223789-179223798
48	BCL3	chr5:179232078-179232689	A549	lung:	n/a	n/a
49	BCL3	chr5:179228740-179229314	A549	lung:	n/a	n/a
50	BCL3	chr5:179245627-179246528	A549	lung:	n/a	chr5:179246322-179246335 chr5:179246136-179246145 chr5:179245888-179245901 chr5:179246140-179246153 chr5:179245784-179245793 chr5:179246224-179246237 chr5:179246174-179246183

(count:3420 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179233122-179233172	Jurkat	blood:	n/a
2	chr5:179228859-179228909	AG09319	gingival:	n/a
3	chr5:179233856-179233906	HRCEpiC	kidney:	n/a
4	chr5:179225977-179226027	Hepatocyte	liver:	n/a
5	chr5:179233122-179233172	Jurkat	blood:	n/a
6	chr5:179228859-179228909	AG09319	gingival:	n/a
7	chr5:179233856-179233906	HRCEpiC	kidney:	n/a
8	chr5:179225977-179226027	Hepatocyte	liver:	n/a
9	chr5:179233856-179233906	AG09319	gingival:	n/a
10	chr5:179244452-179244502	HL-60	blood:	n/a
11	chr5:179232937-179232987	ovcar-3	ovarian:	n/a
12	chr5:179233137-179233187	SKMC	muscle:	n/a
13	chr5:179224836-179224886	HIPEpiC	eye:	n/a
14	chr5:179228489-179228539	SK-N-SH_RA	brain:	n/a
15	chr5:179221059-179221109	PFSK-1	brain:	n/a
16	chr5:179223454-179223504	AG09309	skin:	n/a
17	chr5:179225537-179225587	GM06990	blood:	n/a
18	chr5:179233770-179233820	HCF	heart:	n/a
19	chr5:179225558-179225608	NT2-D1	testis:	n/a
20	chr5:179222639-179222689	HEK293	kidney:	embryo
21	chr5:179228859-179228909	SKMC	muscle:	n/a
22	chr5:179226186-179226236	NHDF-neo	bronchial:	n/a
23	chr5:179221059-179221109	AoSMC	blood vessel:	n/a
24	chr5:179243916-179243966	LNCaP	prostate:	n/a
25	chr5:179228635-179228685	Caco-2	colon:	n/a
26	chr5:179239690-179239740	PFSK-1	brain:	n/a
27	chr5:179226172-179226222	SK-N-SH	brain:	n/a
28	chr5:179239690-179239740	AG09309	skin:	n/a
29	chr5:179231109-179231159	HCT-116	colon:	n/a
30	chr5:179233122-179233172	Hela-S3	cervix:	n/a
31	chr5:179246001-179246051	U87	brain:	n/a
32	chr5:179220589-179220639	Jurkat	blood:	n/a
33	chr5:179233875-179233925	SK-N-SH_RA	brain:	n/a
34	chr5:179233137-179233187	SK-N-SH_RA	brain:	n/a
35	chr5:179246001-179246051	HCT-116	colon:	n/a
36	chr5:179229353-179229403	HNPCEpiC	eye:	n/a
37	chr5:179226009-179226059	HMEC	breast:	n/a
38	chr5:179224836-179224886	GM19239	blood:	n/a
39	chr5:179228635-179228685	HCT-116	colon:	n/a
40	chr5:179221090-179221140	Hela-S3	cervix:	n/a
41	chr5:179223454-179223504	Jurkat	blood:	n/a
42	chr5:179227268-179227318	AoSMC	blood vessel:	n/a
43	chr5:179246106-179246156	HRCEpiC	kidney:	n/a
44	chr5:179246001-179246051	GM06990	blood:	n/a
45	chr5:179226009-179226059	HAEpiC	amniotic membrane:	n/a
46	chr5:179239690-179239740	HCT-116	colon:	n/a
47	chr5:179230002-179230052	ProgFib	skin:	n/a
48	chr5:179221090-179221140	GM12892	blood:	n/a
49	chr5:179225504-179225554	HepG2	liver:	n/a
50	chr5:179223454-179223504	HNPCEpiC	eye:	n/a

(count:82 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:179242622..179245445-chr5:180672767..180675405,2	MCF-7	breast:
2	chr22:43010882..43011449-chr5:179222925..179223848,2	HCT-116	colon:
3	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
4	chr5:178975834..178978833-chr5:179245271..179247079,2	K562	blood:
5	chr5:179197599..179200377-chr5:179228822..179231191,2	MCF-7	breast:
6	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
7	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
8	chr5:179159613..179162067-chr5:179246269..179249324,3	MCF-7	breast:
9	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
10	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:
11	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
12	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
13	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
14	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
15	chr3:113415039..113416819-chr5:179245947..179248252,2	MCF-7	breast:
16	chr5:179227703..179229883-chr5:179285735..179288229,2	K562	blood:
17	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
18	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
19	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
20	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
21	chr5:179234572..179235304-chr5:179245240..179246114,2	HCT-116	colon:
22	chr5:179125840..179127525-chr5:179233336..179235588,2	MCF-7	breast:
23	chr5:179124982..179127073-chr5:179245665..179248620,3	MCF-7	breast:
24	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
25	chr5:179245762..179250347-chr5:179281858..179288397,17	MCF-7	breast:
26	chr5:179124597..179127055-chr5:179246139..179249577,4	MCF-7	breast:
27	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
28	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
29	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
30	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
31	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
32	chr5:179158130..179161320-chr5:179231546..179235366,4	K562	blood:
33	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
34	chr5:179244299..179249031-chr5:179283718..179288072,6	K562	blood:
35	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
36	chr5:179246365..179250489-chr5:179281961..179288216,8	MCF-7	breast:
37	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
38	chr5:179049195..179052432-chr5:179232038..179235083,3	K562	blood:
39	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
40	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
41	chr5:179047327..179049016-chr5:179246235..179248894,2	MCF-7	breast:
42	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
43	chr5:179048735..179051281-chr5:179242342..179244613,2	MCF-7	breast:
44	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:
45	chr5:179246014..179246564-chr9:128003391..128004125,2	Hela-S3	cervix:
46	chr10:120598672..120599438-chr5:179234759..179235474,2	HCT-116	colon:
47	chr5:179194648..179196545-chr5:179230223..179233407,4	K562	blood:
48	chr5:179232749..179234437-chr5:179284019..179286391,2	K562	blood:
49	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
50	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
2	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627
3	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628
4	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
5	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
6	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
7	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
8	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
9	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629
10	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
11	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630
12	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1229-5p	chr5:179225323-179225346	MIMAT0022942
hsa-miR-1229-3p	chr5:179225278-179225300	MIMAT0005584

No data

Variant related genes	Relation type
LTC4S	TF binding region
SQSTM1	TF binding region
MGAT4B	TF binding region
MIR1229	TF binding region
LTC4S	CpG island
SQSTM1	CpG island
MGAT4B	CpG island
MIR1229	CpG island
ENSG00000244380	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000176542	chromatin interactions
ENSG00000137409	chromatin interactions
TUBG1	Mature miRNA region
DDX23	Mature miRNA region
MED19	Mature miRNA region
CEP55	Mature miRNA region
ADPRHL2	Mature miRNA region
CHCHD2	Mature miRNA region
SAE1	Mature miRNA region
NAA50	Mature miRNA region
AHCYL1	Mature miRNA region
AP2M1	Mature miRNA region
RPGRIP1L	Mature miRNA region
PPP4C	Mature miRNA region
PHGDH	Mature miRNA region
IGF2BP1	Mature miRNA region
HNRNPD	Mature miRNA region
TUBA1B	Mature miRNA region
PHRF1	Mature miRNA region
LRBA	Mature miRNA region
VWA8	Mature miRNA region
BET1L	Mature miRNA region
CDC42EP4	Mature miRNA region
PITPNB	Mature miRNA region
C2orf44	Mature miRNA region
OTUD7B	Mature miRNA region
C9orf114	Mature miRNA region
SNX12	Mature miRNA region
KRT28	Mature miRNA region
EML1	Mature miRNA region
FEN1	Mature miRNA region
FOXK1	Mature miRNA region
HYPK	Mature miRNA region
CRISP3	Mature miRNA region
NF2	Mature miRNA region
RPL3	Mature miRNA region
BAP1	Mature miRNA region
SLC16A13	Mature miRNA region
EIF4G2	Mature miRNA region
ERC1	Mature miRNA region
LDOC1L	Mature miRNA region
STAT5B	Mature miRNA region
FOXP1	Mature miRNA region
SLC39A7	Mature miRNA region
PPP6R1	Mature miRNA region
TIA1	Mature miRNA region
NAPEPLD	Mature miRNA region
MDK	Mature miRNA region
HNRNPUL1	Mature miRNA region
HIST4H4	Mature miRNA region
SRCAP	Mature miRNA region
CTDNEP1	Mature miRNA region
CDKN1A	Mature miRNA region
NXPE3	Mature miRNA region
POLR2D	Mature miRNA region
CTCF	Mature miRNA region
PBRM1	Mature miRNA region
SRP72	Mature miRNA region
ACLY	Mature miRNA region
KIF24	Mature miRNA region
RPS15	Mature miRNA region
CEP350	Mature miRNA region
TRRAP	Mature miRNA region
TNRC6B	Mature miRNA region
ATP5A1	Mature miRNA region
CPNE1	Mature miRNA region
PTPRF	Mature miRNA region
COIL	Mature miRNA region
ABCC5	Mature miRNA region
DAG1	Mature miRNA region
ZNF687	Mature miRNA region
GTF2I	Mature miRNA region
DCTD	Mature miRNA region
SCAMP5	Mature miRNA region
SIK2	Mature miRNA region
CEP152	Mature miRNA region
ARL6IP1	Mature miRNA region
FMNL2	Mature miRNA region
OPA3	Mature miRNA region
PHF8	Mature miRNA region
REXO2	Mature miRNA region
TARDBP	Mature miRNA region
CTNND1	Mature miRNA region
SFPQ	Mature miRNA region
C19orf10	Mature miRNA region
CSDE1	Mature miRNA region
KPNB1	Mature miRNA region
HNRNPA3	Mature miRNA region
RNF40	Mature miRNA region
DCAF7	Mature miRNA region
PRDX4	Mature miRNA region
KMT2D	Mature miRNA region
KDM5C	Mature miRNA region
SUPT5H	Mature miRNA region
SCD	Mature miRNA region
ALS2	Mature miRNA region
PHC1	Mature miRNA region
NEU3	Mature miRNA region
INTS10	Mature miRNA region
LRIT1	Mature miRNA region
ITGA5	Mature miRNA region
BRD2	Mature miRNA region
PAK4	Mature miRNA region
INO80D	Mature miRNA region
KCTD15	Mature miRNA region
NME2	Mature miRNA region
MPP2	Mature miRNA region
SAFB	Mature miRNA region
RUVBL2	Mature miRNA region
HIST1H3G	Mature miRNA region
HNRNPA1	Mature miRNA region
YWHAZ	Mature miRNA region
GPI	Mature miRNA region
CPT1B	Mature miRNA region
ACOT7	Mature miRNA region
HADHB	Mature miRNA region
CDIPT	Mature miRNA region
PRKRIP1	Mature miRNA region
GAPDH	Mature miRNA region
PTBP3	Mature miRNA region
ZDHHC7	Mature miRNA region
CTNNBL1	Mature miRNA region
MAD2L2	Mature miRNA region
EPB41L2	Mature miRNA region
MAPKAPK2	Mature miRNA region
NUP210	Mature miRNA region
CLSTN3	Mature miRNA region
TSC22D3	Mature miRNA region
TUSC3	Mature miRNA region
ZNF264	Mature miRNA region
EEF2	Mature miRNA region
RPL7A	Mature miRNA region
ZMYM2	Mature miRNA region
AIF1L	Mature miRNA region
SORBS3	Mature miRNA region
PSMC5	Mature miRNA region

Extended variants
information (count: 1254 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1254 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs730012	chr5:179220638-179220639	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571103937	chr5:179220671-179220672	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538587613	chr5:179220680-179220681	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs561599193	chr5:179220761-179220762	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556904129	chr5:179220766-179220767	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs143548537	chr5:179220795-179220796	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs536074458	chr5:179220843-179220844	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371036839	chr5:179220882-179220883	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs146880351	chr5:179220890-179220891	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs140697852	chr5:179220914-179220915	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546157038	chr5:179220966-179220967	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs28365147	chr5:179220977-179220978	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547041461	chr5:179221001-179221002	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs575923141	chr5:179221016-179221017	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs543273391	chr5:179221022-179221023	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs28365148	chr5:179221031-179221032	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564093147	chr5:179221043-179221044	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs369543970	chr5:179221060-179221061	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs200261371	chr5:179221062-179221063	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs373563671	chr5:179221072-179221073	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs376998290	chr5:179221076-179221077	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs370555009	chr5:179221091-179221092	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs146614595	chr5:179221102-179221103	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs75759006	chr5:179221105-179221106	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs140301841	chr5:179221116-179221117	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs369783912	chr5:179221130-179221131	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs523487	chr5:179221149-179221150	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs141041263	chr5:179221179-179221180	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs524372	chr5:179221206-179221207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs524308	chr5:179221223-179221224	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs188234584	chr5:179221272-179221273	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs28365146	chr5:179221296-179221297	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs61330504	chr5:179221300-179221301	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs137961528	chr5:179221303-179221304	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs572497874	chr5:179221347-179221348	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs539587017	chr5:179221362-179221363	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs149458266	chr5:179221370-179221371	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs368432424	chr5:179221451-179221452	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs575982440	chr5:179221527-179221528	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs115264576	chr5:179221537-179221538	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs561615359	chr5:179221545-179221546	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs573636091	chr5:179221563-179221564	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs192579256	chr5:179221634-179221635	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs184250216	chr5:179221652-179221653	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs200522167	chr5:179221711-179221712	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs551141089	chr5:179221768-179221769	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs548127353	chr5:179221784-179221785	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs530481281	chr5:179221785-179221786	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs272431	chr5:179221789-179221790	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568748049	chr5:179221797-179221798	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2529 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
5	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:179207400-179221000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:179207600-179220800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:179207600-179221200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
11	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:179209000-179220800	Weak transcription	Dnd41	blood
13	chr5:179209400-179222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:179209600-179221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:179215600-179221200	Weak transcription	Thymus	Thymus
16	chr5:179215600-179223200	Weak transcription	HSMMtube	muscle
17	chr5:179218600-179221000	Enhancers	Fetal Muscle Leg	muscle
18	chr5:179218600-179221600	Enhancers	Placenta	Placenta
19	chr5:179218600-179222800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:179218800-179221000	Enhancers	Fetal Muscle Trunk	muscle
21	chr5:179218800-179221000	Enhancers	Right Atrium	heart
22	chr5:179218800-179221000	Enhancers	Right Ventricle	heart
23	chr5:179218800-179222000	Enhancers	Liver	Liver
24	chr5:179219000-179221400	Enhancers	Spleen	Spleen
25	chr5:179219200-179221000	Enhancers	Colonic Mucosa	Colon
26	chr5:179219200-179221000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr5:179219200-179221800	Enhancers	HepG2	liver
28	chr5:179219400-179221000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:179219400-179221000	Enhancers	Brain Hippocampus Middle	brain
30	chr5:179219400-179221000	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:179219400-179221200	Enhancers	Lung	lung
32	chr5:179219400-179222200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:179219400-179222400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:179219400-179222400	Enhancers	Primary B cells from cord blood	blood
35	chr5:179219600-179222400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:179219600-179222400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:179219600-179222800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:179219800-179221000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:179219800-179221800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:179219800-179222200	Weak transcription	Fetal Brain Female	brain
41	chr5:179220000-179220800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:179220000-179221200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:179220000-179221600	Enhancers	Fetal Heart	heart
44	chr5:179220000-179221800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr5:179220000-179222200	Enhancers	Fetal Lung	lung
46	chr5:179220000-179223000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:179220200-179220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:179220200-179220800	Enhancers	Ovary	ovary
49	chr5:179220200-179221000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr5:179220200-179221000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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