Variant report

Variant	nsv600667
Chromosome Location	chr5:179223023-179229039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1005)
CpG islands
(count:1283)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1005 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	ATF2	chr5:179228820-179229198	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr5:179223566-179223919	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:179223385-179223971	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr5:179222984-179223659	GM12878	blood:	n/a	n/a
6	ATF3	chr5:179223092-179223504	A549	lung:	n/a	n/a
7	ATF3	chr5:179228750-179229220	A549	lung:	n/a	n/a
8	BACH1	chr5:179222270-179223747	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:179228855-179229127	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:179228161-179228577	GM12878	blood:	n/a	n/a
11	BCL3	chr5:179223079-179223543	GM12878	blood:	n/a	n/a
12	BCL3	chr5:179222480-179223805	GM12878	blood:	n/a	chr5:179223789-179223798
13	BCL3	chr5:179228673-179229260	A549	lung:	n/a	n/a
14	BCL3	chr5:179223054-179224057	A549	lung:	n/a	chr5:179223789-179223798 chr5:179223959-179223972
15	BCL3	chr5:179228740-179229314	A549	lung:	n/a	n/a
16	BCL3	chr5:179223068-179223847	A549	lung:	n/a	chr5:179223789-179223798
17	BCLAF1	chr5:179228760-179229168	GM12878	blood:	n/a	n/a
18	BCLAF1	chr5:179223083-179223663	GM12878	blood:	n/a	n/a
19	BCLAF1	chr5:179228755-179229209	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:179223062-179223634	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:179228840-179229271	GM12878	blood:	n/a	n/a
22	BHLHE40	chr5:179223155-179223492	HepG2	liver:	n/a	n/a
23	BHLHE40	chr5:179228930-179229106	K562	blood:	n/a	n/a
24	BHLHE40	chr5:179223073-179223566	GM12878	blood:	n/a	n/a
25	BRCA1	chr5:179223323-179223490	GM12878	blood:	n/a	n/a
26	BRCA1	chr5:179223685-179223709	HepG2	liver:	n/a	n/a
27	CCNT2	chr5:179223273-179223720	K562	blood:	n/a	n/a
28	CEBPB	chr5:179223236-179223333	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr5:179223187-179223281	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPD	chr5:179223154-179223753	HepG2	liver:	n/a	n/a
31	CHD1	chr5:179223149-179223623	GM12878	blood:	n/a	n/a
32	CHD1	chr5:179223194-179223534	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr5:179223113-179223524	GM12878	blood:	n/a	n/a
34	CHD2	chr5:179223188-179223571	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr5:179223653-179223908	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr5:179223133-179223502	HepG2	liver:	n/a	n/a
37	CHD2	chr5:179223137-179223426	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr5:179228764-179229106	A549	lung:	n/a	n/a
39	CREB1	chr5:179222843-179223534	A549	lung:	n/a	n/a
40	CREB1	chr5:179222109-179223993	HepG2	liver:	n/a	n/a
41	CTBP2	chr5:179223061-179224132	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr5:179228860-179229010	NHLF	lung:	n/a	n/a
43	CTCF	chr5:179223480-179223630	A549	lung:	n/a	n/a
44	CTCF	chr5:179223180-179223330	HCFaa	heart:	n/a	n/a
45	CTCF	chr5:179223160-179223310	HPF	lung:	n/a	n/a
46	CTCF	chr5:179228842-179229128	A549	lung:	n/a	n/a
47	CTCF	chr5:179228860-179229133	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr5:179223200-179223350	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:179223160-179223310	HepG2	liver:	n/a	n/a
50	CTCF	chr5:179223091-179223489	GM12892	blood:	n/a	n/a

(count:1283 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179225515-179225565	AG04450	lung:	fetal
2	chr5:179226009-179226059	HCPEpiC	choroid plexus:	n/a
3	chr5:179225515-179225565	AG04450	lung:	fetal
4	chr5:179226009-179226059	HCPEpiC	choroid plexus:	n/a
5	chr5:179225537-179225587	ProgFib	skin:	n/a
6	chr5:179224836-179224886	NH-A	brain:	n/a
7	chr5:179227268-179227318	GM12891	blood:	n/a
8	chr5:179226186-179226236	HMEC	breast:	n/a
9	chr5:179226009-179226059	GM12891	blood:	n/a
10	chr5:179226753-179226803	Hela-S3	cervix:	n/a
11	chr5:179228635-179228685	HCF	heart:	n/a
12	chr5:179223116-179223166	MCF10A-Er-Src	breast:	n/a
13	chr5:179226009-179226059	HEK293	kidney:	embryo
14	chr5:179226009-179226059	HAEpiC	amniotic membrane:	n/a
15	chr5:179227268-179227318	HCPEpiC	choroid plexus:	n/a
16	chr5:179226186-179226236	AG09309	skin:	n/a
17	chr5:179225977-179226027	Caco-2	colon:	n/a
18	chr5:179228635-179228685	Hepatocyte	liver:	n/a
19	chr5:179228489-179228539	NB4	blood:	n/a
20	chr5:179225515-179225565	GM12878	blood:	n/a
21	chr5:179225479-179225529	ovcar-3	ovarian:	n/a
22	chr5:179225537-179225587	A549	lung:	n/a
23	chr5:179224751-179224801	PANC-1	pancreas:	n/a
24	chr5:179226186-179226236	HRCEpiC	kidney:	n/a
25	chr5:179226009-179226059	AG09319	gingival:	n/a
26	chr5:179224563-179224613	LNCaP	prostate:	n/a
27	chr5:179228635-179228685	HIPEpiC	eye:	n/a
28	chr5:179226009-179226059	CMK	blood:	n/a
29	chr5:179228635-179228685	LNCaP	prostate:	n/a
30	chr5:179223116-179223166	MCF-7	breast:	n/a
31	chr5:179226009-179226059	NB4	blood:	n/a
32	chr5:179228859-179228909	K562	blood:	n/a
33	chr5:179224984-179225034	HCT-116	colon:	n/a
34	chr5:179226186-179226236	PFSK-1	brain:	n/a
35	chr5:179223116-179223166	NB4	blood:	n/a
36	chr5:179226172-179226222	SK-N-SH_RA	brain:	n/a
37	chr5:179225039-179225089	ProgFib	skin:	n/a
38	chr5:179224984-179225034	SAEC	small airway:	n/a
39	chr5:179225504-179225554	NHBE	bronchial:	n/a
40	chr5:179224984-179225034	AG09309	skin:	n/a
41	chr5:179226186-179226236	AG04450	lung:	fetal
42	chr5:179228635-179228685	Hela-S3	cervix:	n/a
43	chr5:179225558-179225608	Jurkat	blood:	n/a
44	chr5:179225479-179225529	Jurkat	blood:	n/a
45	chr5:179226753-179226803	PrEC	prostate:	n/a
46	chr5:179225039-179225089	HAEpiC	amniotic membrane:	n/a
47	chr5:179224751-179224801	AG10803	skin:	n/a
48	chr5:179225515-179225565	H1-hESC	embryonic stem cell:	embryo
49	chr5:179225504-179225554	ovcar-3	ovarian:	n/a
50	chr5:179225537-179225587	ovcar-3	ovarian:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:
2	chr5:179164536..179166178-chr5:179223167..179224801,2	MCF-7	breast:
3	chr5:179197877..179198480-chr5:179223009..179223771,2	MCF-7	breast:
4	chr5:179104088..179107429-chr5:179222108..179224529,3	MCF-7	breast:
5	chr5:179159678..179161359-chr5:179228559..179231556,2	MCF-7	breast:
6	chr5:179123572..179126776-chr5:179221240..179224069,3	MCF-7	breast:
7	chr5:179197599..179200377-chr5:179228822..179231191,2	MCF-7	breast:
8	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
9	chr5:179204721..179205577-chr5:179222799..179223648,2	MCF-7	breast:
10	chr5:179158179..179161014-chr5:179220671..179223680,5	MCF-7	breast:
11	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
12	chr5:179227703..179229883-chr5:179285735..179288229,2	K562	blood:
13	chr5:179227703..179229883-chr5:179285735..179289127,3	K562	blood:
14	chr5:179125163..179127622-chr5:179228110..179231035,2	K562	blood:
15	chr5:179157523..179162988-chr5:179219694..179224698,13	MCF-7	breast:
16	chr5:179221198..179223904-chr5:179283563..179286738,3	MCF-7	breast:
17	chr5:179159145..179159714-chr5:179223109..179223845,2	MCF-7	breast:
18	chr5:179229039..179235504-chr5:179284286..179287391,9	MCF-7	breast:
19	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
20	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
21	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
22	chr22:43010882..43011449-chr5:179222925..179223848,2	HCT-116	colon:
23	chr5:179189767..179190816-chr5:179222590..179224521,15	MCF-7	breast:
24	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
25	chr5:179223013..179224914-chr5:180672992..180675408,2	MCF-7	breast:
26	chr5:179104067..179106595-chr5:179220718..179223236,3	MCF-7	breast:

No data

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

Extended variants
information (count: 424 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13162195	chr5:179223023-179223024	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs567435148	chr5:179223046-179223047	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs534691041	chr5:179223107-179223108	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs546997286	chr5:179223120-179223121	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs138945650	chr5:179223121-179223122	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs371659152	chr5:179223165-179223166	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs538963153	chr5:179223174-179223175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs2306795	chr5:179223238-179223239	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142929648	chr5:179223324-179223325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs11541078	chr5:179223367-179223368	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs536474288	chr5:179223370-179223371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs369666913	chr5:179223396-179223397	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs28365149	chr5:179223408-179223409	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs11541077	chr5:179223411-179223412	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs554671997	chr5:179223480-179223481	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs572929001	chr5:179223488-179223489	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs373004675	chr5:179223491-179223492	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs181293842	chr5:179223540-179223541	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs200179988	chr5:179223566-179223567	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs564945464	chr5:179223580-179223581	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs578182066	chr5:179223584-179223585	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs555157256	chr5:179223614-179223615	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs563644134	chr5:179223625-179223626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs530972500	chr5:179223644-179223645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs3756614	chr5:179223645-179223646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561200242	chr5:179223654-179223655	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs541295939	chr5:179223669-179223670	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs147425644	chr5:179223671-179223672	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs34125283	chr5:179223673-179223674	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs34525200	chr5:179223677-179223678	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs546667368	chr5:179223682-179223683	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs35926117	chr5:179223697-179223698	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs571576037	chr5:179223700-179223701	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs185599543	chr5:179223753-179223754	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs148468341	chr5:179223760-179223761	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs141731393	chr5:179223761-179223762	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs569192482	chr5:179223767-179223768	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs536435941	chr5:179223773-179223774	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs554833354	chr5:179223789-179223790	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs76396053	chr5:179223834-179223835	Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs150644191	chr5:179223846-179223847	Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs532932028	chr5:179223872-179223873	Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs558381167	chr5:179224004-179224005	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs576727937	chr5:179224041-179224042	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs543818069	chr5:179224061-179224062	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs201290774	chr5:179224094-179224095	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs138686538	chr5:179224096-179224097	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs201929030	chr5:179224098-179224099	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs563622323	chr5:179224157-179224158	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs575558124	chr5:179224188-179224189	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 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:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179215600-179223200	Weak transcription	HSMMtube	muscle
2	chr5:179220200-179223800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr5:179220600-179224200	Weak transcription	K562	blood
4	chr5:179221000-179223600	Active TSS	Brain Substantia Nigra	brain
5	chr5:179221200-179223600	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:179221800-179223600	Active TSS	Brain Angular Gyrus	brain
7	chr5:179221800-179224000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:179221800-179224400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:179222000-179223600	Active TSS	Brain Hippocampus Middle	brain
10	chr5:179222000-179223600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:179222000-179224000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:179222000-179224000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:179222000-179224200	Enhancers	Fetal Heart	heart
14	chr5:179222200-179223400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr5:179222200-179223600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:179222200-179223600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:179222200-179223600	Active TSS	Fetal Brain Female	brain
18	chr5:179222200-179223800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179222200-179223800	Active TSS	Brain Anterior Caudate	brain
20	chr5:179222200-179223800	Active TSS	Fetal Kidney	kidney
21	chr5:179222200-179223800	Active TSS	Hela-S3	cervix
22	chr5:179222200-179224000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr5:179222200-179224000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:179222200-179224000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:179222200-179224000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:179222400-179223400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:179222400-179223600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:179222400-179223600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:179222400-179223600	Active TSS	Brain Cingulate Gyrus	brain
30	chr5:179222400-179223600	Active TSS	Duodenum Mucosa	Duodenum
31	chr5:179222400-179223600	Active TSS	Esophagus	oesophagus
32	chr5:179222400-179223600	Active TSS	Fetal Intestine Large	intestine
33	chr5:179222400-179223600	Active TSS	Fetal Intestine Small	intestine
34	chr5:179222400-179223600	Active TSS	NHLF	lung
35	chr5:179222400-179223800	Active TSS	H1 Cell Line	embryonic stem cell
36	chr5:179222400-179223800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:179222400-179223800	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:179222400-179223800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:179222400-179223800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179222400-179223800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:179222400-179223800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr5:179222400-179223800	Active TSS	HepG2	liver
43	chr5:179222400-179223800	Active TSS	Osteobl	bone
44	chr5:179222400-179224000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:179222400-179224000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr5:179222400-179224000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr5:179222400-179224000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:179222400-179224000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr5:179222400-179224200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr5:179222600-179223200	Weak transcription	Fetal Brain Male	brain

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