Variant report

Variant	nsv823361
Chromosome Location	chr5:179213324-179251243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4107)
CpG islands
(count:4398)
Chromatin interactive
region (count:124)
LncRNA
region (count:14)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:4107 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179247261-179247994	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179246045-179246245	K562	blood:	n/a	n/a
3	ARID3A	chr5:179228954-179229015	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:179233798-179233910	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179245825-179246612	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179248732-179249164	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179238472-179238657	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:179238431-179238489	K562	blood:	n/a	n/a
9	ARID3A	chr5:179235335-179235623	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:179247865-179248166	K562	blood:	n/a	n/a
11	ARID3A	chr5:179234889-179235089	HepG2	liver:	n/a	n/a
12	ATF1	chr5:179245838-179246287	K562	blood:	n/a	n/a
13	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
14	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:179245665-179246382	GM12878	blood:	n/a	n/a
16	ATF2	chr5:179247556-179248126	GM12878	blood:	n/a	n/a
17	ATF2	chr5:179245811-179246235	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr5:179245799-179246272	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr5:179245831-179246319	GM12878	blood:	n/a	n/a
20	ATF2	chr5:179248603-179248981	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF2	chr5:179247715-179248053	GM12878	blood:	n/a	n/a
23	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
25	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
26	ATF3	chr5:179247834-179248228	K562	blood:	n/a	chr5:179248165-179248179 chr5:179248169-179248180 chr5:179247852-179247861
27	ATF3	chr5:179248528-179249230	A549	lung:	n/a	n/a
28	ATF3	chr5:179232903-179233159	K562	blood:	n/a	chr5:179233081-179233090
29	ATF3	chr5:179247575-179248212	A549	lung:	n/a	chr5:179248165-179248179 chr5:179247812-179247821 chr5:179248169-179248180 chr5:179247852-179247861
30	ATF3	chr5:179245937-179246285	K562	blood:	n/a	n/a
31	ATF3	chr5:179245828-179246363	A549	lung:	n/a	chr5:179246322-179246331
32	ATF3	chr5:179245797-179246410	A549	lung:	n/a	chr5:179246322-179246331
33	ATF3	chr5:179245955-179246291	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr5:179245969-179246270	GM12878	blood:	n/a	n/a
35	ATF3	chr5:179245922-179246268	K562	blood:	n/a	n/a
36	ATF3	chr5:179247643-179248142	A549	lung:	n/a	chr5:179247812-179247821 chr5:179247852-179247861
37	ATF3	chr5:179245824-179246291	GM12878	blood:	n/a	n/a
38	ATF3	chr5:179245934-179246278	HepG2	liver:	n/a	n/a
39	BACH1	chr5:179249631-179249635	K562	blood:	n/a	n/a
40	BACH1	chr5:179222270-179223747	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr5:179228855-179229127	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr5:179245903-179247768	K562	blood:	n/a	chr5:179247551-179247565 chr5:179246583-179246597
43	BACH1	chr5:179245605-179248095	H1-hESC	embryonic stem cell:	n/a	chr5:179247551-179247565 chr5:179246583-179246597
44	BACH1	chr5:179243959-179244449	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr5:179233933-179234497	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr5:179247989-179248000	K562	blood:	n/a	n/a
47	BACH1	chr5:179245117-179245247	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr5:179245901-179246284	GM12878	blood:	n/a	n/a
49	BATF	chr5:179246404-179246690	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:179245933-179246296	GM12878	blood:	n/a	chr5:179246136-179246145 chr5:179246140-179246153 chr5:179246224-179246237 chr5:179246174-179246183

(count:4398 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179238472-179238522	HepG2	liver:	n/a
2	chr5:179225039-179225089	K562	blood:	n/a
3	chr5:179233137-179233187	HL-60	blood:	n/a
4	chr5:179234149-179234199	GM12891	blood:	n/a
5	chr5:179231109-179231159	Caco-2	colon:	n/a
6	chr5:179228489-179228539	HEEpiC	esophagus:	n/a
7	chr5:179238472-179238522	HepG2	liver:	n/a
8	chr5:179225039-179225089	K562	blood:	n/a
9	chr5:179233137-179233187	HL-60	blood:	n/a
10	chr5:179234149-179234199	GM12891	blood:	n/a
11	chr5:179231109-179231159	Caco-2	colon:	n/a
12	chr5:179228489-179228539	HEEpiC	esophagus:	n/a
13	chr5:179234439-179234489	PFSK-1	brain:	n/a
14	chr5:179218853-179218903	LNCaP	prostate:	n/a
15	chr5:179225479-179225529	HRCEpiC	kidney:	n/a
16	chr5:179220274-179220324	HRE	kidney:	n/a
17	chr5:179250940-179250990	PrEC	prostate:	n/a
18	chr5:179244452-179244502	CMK	blood:	n/a
19	chr5:179244317-179244367	LNCaP	prostate:	n/a
20	chr5:179241969-179242019	HCT-116	colon:	n/a
21	chr5:179250985-179251035	GM06990	blood:	n/a
22	chr5:179247983-179248033	NHBE	bronchial:	n/a
23	chr5:179233589-179233639	ovcar-3	ovarian:	n/a
24	chr5:179231109-179231159	HIPEpiC	eye:	n/a
25	chr5:179225504-179225554	HL-60	blood:	n/a
26	chr5:179234187-179234237	HIPEpiC	eye:	n/a
27	chr5:179218853-179218903	H1-hESC	embryonic stem cell:	embryo
28	chr5:179247688-179247738	NHDF-neo	bronchial:	n/a
29	chr5:179221059-179221109	K562	blood:	n/a
30	chr5:179226753-179226803	HL-60	blood:	n/a
31	chr5:179250985-179251035	NHBE	bronchial:	n/a
32	chr5:179248748-179248798	NT2-D1	testis:	n/a
33	chr5:179238472-179238522	GM06990	blood:	n/a
34	chr5:179247990-179248040	Hela-S3	cervix:	n/a
35	chr5:179233856-179233906	CMK	blood:	n/a
36	chr5:179228859-179228909	Caco-2	colon:	n/a
37	chr5:179241969-179242019	Caco-2	colon:	n/a
38	chr5:179247603-179247653	HUVEC	blood vessel:	n/a
39	chr5:179227268-179227318	HIPEpiC	eye:	n/a
40	chr5:179238472-179238522	T-47D	breast:	n/a
41	chr5:179247663-179247713	HepG2	liver:	n/a
42	chr5:179232937-179232987	SK-N-SH	brain:	n/a
43	chr5:179224751-179224801	Caco-2	colon:	n/a
44	chr5:179235209-179235259	NH-A	brain:	n/a
45	chr5:179232937-179232987	HUVEC	blood vessel:	n/a
46	chr5:179232937-179232987	BE2_C	brain:	n/a
47	chr5:179233770-179233820	Jurkat	blood:	n/a
48	chr5:179230709-179230759	HPAEpiC	pulmonary alveolar:	n/a
49	chr5:179228489-179228539	AG04449	skin:	fetal
50	chr5:179247663-179247713	GM19239	blood:	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:
2	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
3	chr5:179205957..179207615-chr5:179218348..179219920,2	MCF-7	breast:
4	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
5	chr5:179245622..179247689-chr5:179288276..179289796,2	MCF-7	breast:
6	chr5:179247476..179249200-chr5:179334152..179336100,2	K562	blood:
7	chr10:120598672..120599438-chr5:179234759..179235474,2	HCT-116	colon:
8	chr5:179246014..179246564-chr9:128003391..128004125,2	Hela-S3	cervix:
9	chr5:179246544..179252042-chr5:179284250..179287282,6	K562	blood:
10	chr22:39715244..39717171-chr5:179246007..179248783,2	MCF-7	breast:
11	chr5:179210097..179212795-chr5:179213653..179217175,3	MCF-7	breast:
12	chr5:179197599..179200377-chr5:179228822..179231191,2	MCF-7	breast:
13	chr5:179103716..179105834-chr5:179232132..179234075,2	MCF-7	breast:
14	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
15	chr2:196521594..196522509-chr5:179247468..179248353,2	Hela-S3	cervix:
16	chr5:179125392..179128992-chr5:179244423..179246560,4	K562	blood:
17	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
18	chr5:179232651..179234632-chr5:179498072..179500275,2	MCF-7	breast:
19	chr14:55518268..55519074-chr5:179247805..179248408,2	Hela-S3	cervix:
20	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
21	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
22	chr5:179249513..179251306-chr5:179288152..179289693,2	K562	blood:
23	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
24	chr5:179211965..179215539-chr5:179247804..179250502,3	K562	blood:
25	chr1:145382282..145382834-chr5:179247501..179248079,2	Hela-S3	cervix:
26	chr5:179192680..179196164-chr5:179217971..179221244,3	MCF-7	breast:
27	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
28	chr5:179124597..179127055-chr5:179246139..179249577,4	MCF-7	breast:
29	chr11:10830034..10830806-chr5:179247811..179248764,2	Hela-S3	cervix:
30	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
31	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
32	chr5:177632239..177635165-chr5:179247019..179248858,2	K562	blood:
33	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
34	chr3:113415039..113416819-chr5:179245947..179248252,2	MCF-7	breast:
35	chr5:179242622..179245445-chr5:180672767..180675405,2	MCF-7	breast:
36	chr5:179203387..179205916-chr5:179217553..179219501,2	MCF-7	breast:
37	chr5:179159426..179161743-chr5:179249637..179251731,2	MCF-7	breast:
38	chr5:179124533..179126912-chr5:179247842..179250922,3	K562	blood:
39	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
40	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
41	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
42	chr5:179124990..179127718-chr5:179220717..179222385,2	K562	blood:
43	chr5:179192837..179195567-chr5:179212671..179216209,3	K562	blood:
44	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
45	chr5:179208245..179209901-chr5:179214926..179216675,2	MCF-7	breast:
46	chr5:179192355..179194197-chr5:179212856..179215229,2	MCF-7	breast:
47	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
48	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
49	chr5:179122850..179128148-chr5:179246584..179249342,5	K562	blood:
50	chr5:179232661..179233569-chr5:179247811..179248453,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-1	chr5:179215129-179215154	NONHSAT105621
2	lnc-LTC4S-2	chr5:179234324-179235427	NONHSAT105630
3	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105629
4	lnc-C5orf45-4	chr5:179233193-179233305	NONHSAT105627
5	lnc-LTC4S-1	chr5:179218765-179220536	NONHSAT105621
6	lnc-LTC4S-2	chr5:179239407-179240598	NONHSAT105630
7	lnc-C5orf45-4	chr5:179229313-179230030	NONHSAT105627
8	lnc-LTC4S-2	chr5:179238574-179238682	NONHSAT105630
9	lnc-C5orf45-4	chr5:179231941-179232385	NONHSAT105628
10	lnc-C5orf45-4	chr5:179229952-179230030	NONHSAT105628
11	lnc-LTC4S-2	chr5:179233398-179233591	NONHSAT105629
12	lnc-LTC4S-2	chr5:179238615-179238682	NONHSAT105631
13	lnc-LTC4S-2	chr5:179238988-179240641	NONHSAT105631
14	lnc-LTC4S-2	chr5:179239407-179240024	NONHSAT105629

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

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
ENSG00000161011	chromatin interactions
ENSG00000164053	chromatin interactions
ENSG00000196950	chromatin interactions
ENSG00000245317	chromatin interactions
ENSG00000170468	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000100316	chromatin interactions
ENSG00000239705	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000113269	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000111647	chromatin interactions
ENSG00000100227	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000244380	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000176542	chromatin interactions
ENSG00000078304	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000259088	chromatin interactions
ENSG00000161010	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000167965	chromatin interactions
ENSG00000118263	chromatin interactions
ENSG00000252958	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000257696	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000044574	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000255242	chromatin interactions
LDOC1L	Mature miRNA region
EPB41L2	Mature miRNA region
C2orf44	Mature miRNA region
MED19	Mature miRNA region
MAD2L2	Mature miRNA region
HYPK	Mature miRNA region
NF2	Mature miRNA region
SCAMP5	Mature miRNA region
LRBA	Mature miRNA region
RPL3	Mature miRNA region
KPNB1	Mature miRNA region
BAP1	Mature miRNA region
SRCAP	Mature miRNA region
SAFB	Mature miRNA region
CEP350	Mature miRNA region
DCAF7	Mature miRNA region
TSC22D3	Mature miRNA region
ERC1	Mature miRNA region
HIST4H4	Mature miRNA region
RPGRIP1L	Mature miRNA region
FEN1	Mature miRNA region
ITGA5	Mature miRNA region
RUVBL2	Mature miRNA region
SIK2	Mature miRNA region
ZNF264	Mature miRNA region
HNRNPA1	Mature miRNA region
RNF40	Mature miRNA region
SLC16A13	Mature miRNA region
PRDX4	Mature miRNA region
C19orf10	Mature miRNA region
NXPE3	Mature miRNA region
ACOT7	Mature miRNA region
AP2M1	Mature miRNA region
GTF2I	Mature miRNA region
TUBG1	Mature miRNA region
DAG1	Mature miRNA region
ADPRHL2	Mature miRNA region
VWA8	Mature miRNA region
TUSC3	Mature miRNA region
YWHAZ	Mature miRNA region
CDC42EP4	Mature miRNA region
SORBS3	Mature miRNA region
MAPKAPK2	Mature miRNA region
KDM5C	Mature miRNA region
NAPEPLD	Mature miRNA region
EEF2	Mature miRNA region
SUPT5H	Mature miRNA region
INTS10	Mature miRNA region
CPT1B	Mature miRNA region
PSMC5	Mature miRNA region
PTBP3	Mature miRNA region
GPI	Mature miRNA region
PITPNB	Mature miRNA region
BRD2	Mature miRNA region
C9orf114	Mature miRNA region
CDKN1A	Mature miRNA region
PTPRF	Mature miRNA region
FOXP1	Mature miRNA region
ALS2	Mature miRNA region
AHCYL1	Mature miRNA region
CTNNBL1	Mature miRNA region
LRIT1	Mature miRNA region
TRRAP	Mature miRNA region
SNX12	Mature miRNA region
MDK	Mature miRNA region
EML1	Mature miRNA region
HADHB	Mature miRNA region
PHGDH	Mature miRNA region
CDIPT	Mature miRNA region
TNRC6B	Mature miRNA region
BET1L	Mature miRNA region
PBRM1	Mature miRNA region
ZNF687	Mature miRNA region
CEP152	Mature miRNA region
CTDNEP1	Mature miRNA region
HNRNPD	Mature miRNA region
SAE1	Mature miRNA region
SLC39A7	Mature miRNA region
PHRF1	Mature miRNA region
RPS15	Mature miRNA region
KCTD15	Mature miRNA region
FOXK1	Mature miRNA region
CTCF	Mature miRNA region
ZMYM2	Mature miRNA region
REXO2	Mature miRNA region
SCD	Mature miRNA region
DDX23	Mature miRNA region
CHCHD2	Mature miRNA region
NAA50	Mature miRNA region
ATP5A1	Mature miRNA region
PPP4C	Mature miRNA region
CEP55	Mature miRNA region
RPL7A	Mature miRNA region
ABCC5	Mature miRNA region
SFPQ	Mature miRNA region
PAK4	Mature miRNA region
KRT28	Mature miRNA region
NEU3	Mature miRNA region
ACLY	Mature miRNA region
OPA3	Mature miRNA region
PHF8	Mature miRNA region
KMT2D	Mature miRNA region
CRISP3	Mature miRNA region
FMNL2	Mature miRNA region
HNRNPA3	Mature miRNA region
MPP2	Mature miRNA region
NME2	Mature miRNA region
AIF1L	Mature miRNA region
TIA1	Mature miRNA region
CLSTN3	Mature miRNA region
IGF2BP1	Mature miRNA region
SRP72	Mature miRNA region
TARDBP	Mature miRNA region
ARL6IP1	Mature miRNA region
STAT5B	Mature miRNA region
CTNND1	Mature miRNA region
DCTD	Mature miRNA region
GAPDH	Mature miRNA region
EIF4G2	Mature miRNA region
INO80D	Mature miRNA region
PPP6R1	Mature miRNA region
PHC1	Mature miRNA region
PRKRIP1	Mature miRNA region
ZDHHC7	Mature miRNA region
OTUD7B	Mature miRNA region
TUBA1B	Mature miRNA region
CSDE1	Mature miRNA region
HIST1H3G	Mature miRNA region
CPNE1	Mature miRNA region
POLR2D	Mature miRNA region
HNRNPUL1	Mature miRNA region
KIF24	Mature miRNA region
COIL	Mature miRNA region
NUP210	Mature miRNA region

Extended variants
information (count: 1858 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560679437	chr5:179213349-179213350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546765832	chr5:179213365-179213366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370630554	chr5:179213389-179213390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs559455132	chr5:179213443-179213444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186108951	chr5:179213481-179213482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575413251	chr5:179213556-179213557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532632106	chr5:179213571-179213572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139216934	chr5:179213578-179213579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142494273	chr5:179213621-179213622	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536225447	chr5:179213622-179213623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555020091	chr5:179213642-179213643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189551238	chr5:179213645-179213646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534109106	chr5:179213647-179213648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558775351	chr5:179213657-179213658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577071400	chr5:179213669-179213670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544397417	chr5:179213729-179213730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555957536	chr5:179213737-179213738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145963498	chr5:179213802-179213803	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181886397	chr5:179213822-179213823	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs574689094	chr5:179213823-179213824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs36021615	chr5:179213847-179213848	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540466758	chr5:179213871-179213872	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559741736	chr5:179213907-179213908	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528754319	chr5:179213914-179213915	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540568717	chr5:179213915-179213916	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565249799	chr5:179213916-179213917	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186144503	chr5:179214019-179214020	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1469020	chr5:179214024-179214025	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532701424	chr5:179214033-179214034	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552518135	chr5:179214038-179214039	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569219279	chr5:179214044-179214045	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34033865	chr5:179214073-179214074	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368964036	chr5:179214088-179214089	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201272850	chr5:179214097-179214098	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149664855	chr5:179214127-179214128	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs72807337	chr5:179214160-179214161	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566919471	chr5:179214198-179214199	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs67952129	chr5:179214224-179214225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559886379	chr5:179214228-179214229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1469021	chr5:179214251-179214252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs145625771	chr5:179214252-179214253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148473668	chr5:179214264-179214265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190561522	chr5:179214285-179214286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535580292	chr5:179214313-179214314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546819598	chr5:179214320-179214321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566744565	chr5:179214338-179214339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183556418	chr5:179214428-179214429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370441946	chr5:179214435-179214436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs490122	chr5:179214450-179214451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558845623	chr5:179214507-179214508	Weak transcription	Chromatin interactive region	1 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:3339 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179199800-179214000	Weak transcription	Fetal Brain Male	brain
2	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:179203400-179213400	Weak transcription	Psoas Muscle	Psoas
4	chr5:179203400-179218200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:179203600-179219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:179203600-179220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
10	chr5:179205000-179218800	Weak transcription	Right Atrium	heart
11	chr5:179205200-179220600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:179206000-179220200	Weak transcription	Ovary	ovary
14	chr5:179206400-179214600	Weak transcription	HepG2	liver
15	chr5:179206400-179219200	Weak transcription	Gastric	stomach
16	chr5:179207000-179220200	Weak transcription	GM12878-XiMat	blood
17	chr5:179207200-179215200	Weak transcription	HSMMtube	muscle
18	chr5:179207200-179218600	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:179207200-179218800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:179207200-179220600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:179207400-179215200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:179207400-179218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:179207400-179219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:179207400-179221000	Weak transcription	Brain Substantia Nigra	brain
25	chr5:179207600-179213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:179207600-179218800	Weak transcription	Fetal Lung	lung
27	chr5:179207600-179219200	Weak transcription	Colonic Mucosa	Colon
28	chr5:179207600-179219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:179207600-179219400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:179207600-179220000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:179207600-179220200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr5:179207600-179220200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr5:179207600-179220200	Weak transcription	Pancreas	Pancrea
34	chr5:179207600-179220600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr5:179207600-179220800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:179207600-179221200	Weak transcription	Fetal Intestine Large	intestine
37	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
39	chr5:179207800-179215200	Weak transcription	Liver	Liver
40	chr5:179207800-179216200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:179207800-179218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:179207800-179219200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:179207800-179220200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:179207800-179220200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:179207800-179220400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:179207800-179220400	Weak transcription	Brain Angular Gyrus	brain
47	chr5:179207800-179220400	Weak transcription	HSMM	muscle
48	chr5:179207800-179220600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:179208000-179215000	Weak transcription	NH-A	brain

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