Variant report

Variant	nsv889725
Chromosome Location	chr8:1765371-1816527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:932)
CpG islands
(count:6166)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:1778106-1778154	K562	blood:	n/a	n/a
2	ATF3	chr8:1771806-1772022	H1-hESC	embryonic stem cell:	n/a	chr8:1771884-1771893 chr8:1771940-1771960 chr8:1771940-1771949
3	ATF3	chr8:1771788-1772056	K562	blood:	n/a	chr8:1771884-1771893 chr8:1771940-1771960 chr8:1771940-1771949
4	BACH1	chr8:1777228-1777861	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr8:1772500-1772545	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr8:1789055-1789249	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:1792557-1792581	K562	blood:	n/a	n/a
8	BACH1	chr8:1786794-1788094	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr8:1771322-1772099	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr8:1777522-1777722	K562	blood:	n/a	n/a
11	BCL3	chr8:1799220-1799673	GM12878	blood:	n/a	n/a
12	BCL3	chr8:1802840-1803070	GM12878	blood:	n/a	n/a
13	BCL3	chr8:1799177-1799567	GM12878	blood:	n/a	n/a
14	BCL3	chr8:1802755-1803054	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:1771793-1772093	K562	blood:	n/a	n/a
16	BHLHE40	chr8:1777502-1777862	K562	blood:	n/a	n/a
17	BHLHE40	chr8:1771338-1771455	K562	blood:	n/a	n/a
18	BRCA1	chr8:1771884-1772159	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr8:1792391-1792629	GM12878	blood:	n/a	n/a
20	BRCA1	chr8:1792449-1792452	HepG2	liver:	n/a	n/a
21	CBX3	chr8:1771711-1772165	K562	blood:	n/a	n/a
22	CBX3	chr8:1792450-1792695	K562	blood:	n/a	n/a
23	CBX3	chr8:1771260-1771580	K562	blood:	n/a	n/a
24	CCNT2	chr8:1777538-1777751	K562	blood:	n/a	n/a
25	CCNT2	chr8:1771724-1772142	K562	blood:	n/a	chr8:1771784-1771793
26	CCNT2	chr8:1794192-1794427	K562	blood:	n/a	n/a
27	CEBPB	chr8:1803442-1803770	K562	blood:	n/a	n/a
28	CEBPB	chr8:1768456-1768774	K562	blood:	n/a	n/a
29	CEBPB	chr8:1771263-1771598	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr8:1768611-1768802	HepG2	liver:	n/a	n/a
31	CEBPB	chr8:1791838-1791972	HepG2	liver:	n/a	chr8:1791884-1791895
32	CEBPB	chr8:1771812-1772111	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr8:1789068-1789300	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr8:1792554-1792562	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr8:1771333-1772575	Hela-S3	cervix:	n/a	chr8:1772438-1772448 chr8:1772508-1772518 chr8:1771616-1771626 chr8:1771785-1771795 chr8:1772352-1772362
36	CHD2	chr8:1771658-1772195	K562	blood:	n/a	chr8:1771785-1771795
37	CHD2	chr8:1792600-1792732	HepG2	liver:	n/a	n/a
38	CHD2	chr8:1771333-1772203	H1-hESC	embryonic stem cell:	n/a	chr8:1771616-1771626 chr8:1771785-1771795
39	CREB1	chr8:1771668-1772168	A549	lung:	n/a	n/a
40	CREB1	chr8:1771616-1772282	H1-hESC	embryonic stem cell:	n/a	n/a
41	CREB1	chr8:1771286-1771573	A549	lung:	n/a	n/a
42	CREB1	chr8:1765051-1765569	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr8:1765035-1765490	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr8:1771575-1772007	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr8:1770420-1770570	A549	lung:	n/a	n/a
46	CTCF	chr8:1789133-1789252	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:1789080-1789230	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr8:1766420-1766570	NHEK	skin:	n/a	chr8:1766557-1766570
49	CTCF	chr8:1771620-1771770	AG04449	skin:	n/a	n/a
50	CTCF	chr8:1766420-1766570	SAEC	small airway:	n/a	chr8:1766557-1766570

(count:6166 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1792023-1792073	NT2-D1	testis:	n/a
2	chr8:1809589-1809639	SK-N-MC	brain:	n/a
3	chr8:1771973-1772023	HPAEpiC	pulmonary alveolar:	n/a
4	chr8:1789169-1789219	HNPCEpiC	eye:	n/a
5	chr8:1765477-1765527	K562	blood:	n/a
6	chr8:1792023-1792073	NT2-D1	testis:	n/a
7	chr8:1809589-1809639	SK-N-MC	brain:	n/a
8	chr8:1771973-1772023	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:1789169-1789219	HNPCEpiC	eye:	n/a
10	chr8:1765477-1765527	K562	blood:	n/a
11	chr8:1811760-1811810	HRPEpiC	eye:	n/a
12	chr8:1790905-1790955	SK-N-MC	brain:	n/a
13	chr8:1765421-1765471	HAEpiC	amniotic membrane:	n/a
14	chr8:1792615-1792665	SAEC	small airway:	n/a
15	chr8:1771973-1772023	GM06990	blood:	n/a
16	chr8:1780242-1780292	PANC-1	pancreas:	n/a
17	chr8:1810526-1810576	H1-hESC	embryonic stem cell:	embryo
18	chr8:1766126-1766176	HCPEpiC	choroid plexus:	n/a
19	chr8:1814096-1814146	IMR90	lung:	fetal
20	chr8:1771973-1772023	GM19239	blood:	n/a
21	chr8:1765421-1765471	Hepatocyte	liver:	n/a
22	chr8:1814096-1814146	ovcar-3	ovarian:	n/a
23	chr8:1799411-1799461	HCF	heart:	n/a
24	chr8:1771973-1772023	AoSMC	blood vessel:	n/a
25	chr8:1788325-1788375	A549	lung:	n/a
26	chr8:1779818-1779868	AG09309	skin:	n/a
27	chr8:1790861-1790911	AoSMC	blood vessel:	n/a
28	chr8:1772116-1772166	MCF10A-Er-Src	breast:	n/a
29	chr8:1799411-1799461	HNPCEpiC	eye:	n/a
30	chr8:1792249-1792299	GM19239	blood:	n/a
31	chr8:1792213-1792263	PrEC	prostate:	n/a
32	chr8:1794627-1794677	HCPEpiC	choroid plexus:	n/a
33	chr8:1797917-1797967	LNCaP	prostate:	n/a
34	chr8:1772352-1772402	NH-A	brain:	n/a
35	chr8:1808270-1808320	T-47D	breast:	n/a
36	chr8:1809920-1809970	AG09309	skin:	n/a
37	chr8:1794627-1794677	GM06990	blood:	n/a
38	chr8:1786072-1786122	HRCEpiC	kidney:	n/a
39	chr8:1792758-1792808	HepG2	liver:	n/a
40	chr8:1789463-1789513	HRCEpiC	kidney:	n/a
41	chr8:1766126-1766176	NB4	blood:	n/a
42	chr8:1792160-1792210	HRE	kidney:	n/a
43	chr8:1789537-1789587	ovcar-3	ovarian:	n/a
44	chr8:1785833-1785883	CMK	blood:	n/a
45	chr8:1812138-1812188	SK-N-SH_RA	brain:	n/a
46	chr8:1810297-1810347	AG04449	skin:	fetal
47	chr8:1772352-1772402	Jurkat	blood:	n/a
48	chr8:1779056-1779106	HMEC	breast:	n/a
49	chr8:1772080-1772130	ProgFib	skin:	n/a
50	chr8:1786322-1786372	AoSMC	blood vessel:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:1792966..1795761-chr8:1797297..1800005,2	MCF-7	breast:
2	chr8:1772602..1774106-chr8:1775619..1777566,2	K562	blood:
3	chr8:1778222..1780570-chr8:1782075..1784994,4	MCF-7	breast:
4	chr8:1764550..1766629-chr8:1770415..1772487,2	K562	blood:
5	chr8:1709347..1712341-chr8:1770235..1771752,2	MCF-7	breast:
6	chr8:1790802..1792919-chr8:1794714..1797248,2	K562	blood:
7	chr8:1815516..1817789-chr8:1884960..1887477,2	K562	blood:
8	chr8:1710415..1713375-chr8:1784468..1786850,2	MCF-7	breast:
9	chr8:1809191..1811307-chr8:1819741..1822402,2	K562	blood:
10	chr8:1710918..1712882-chr8:1766102..1768969,2	K562	blood:
11	chr8:1804701..1806345-chr8:1808982..1810841,2	MCF-7	breast:
12	chr8:1791902..1794095-chr8:1800796..1802523,2	K562	blood:
13	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:
14	chr8:1768039..1769894-chr8:1773535..1776325,2	MCF-7	breast:
15	chr8:1710901..1715165-chr8:1763143..1767602,4	K562	blood:
16	chr8:1778222..1780570-chr8:1782075..1784994,4	MCF-7	breast:
17	chr8:1711323..1713781-chr8:1804428..1806395,2	MCF-7	breast:
18	chr8:1692125..1694169-chr8:1767018..1769382,2	MCF-7	breast:
19	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:
20	chr8:1764550..1766629-chr8:1770415..1772487,2	K562	blood:
21	chr19:39574470..39577467-chr8:1791052..1792928,2	MCF-7	breast:
22	chr8:1770355..1772056-chr8:1783670..1785482,2	MCF-7	breast:
23	chr8:1791902..1794095-chr8:1800796..1802523,2	K562	blood:
24	chr8:1703592..1705221-chr8:1778659..1781628,2	MCF-7	breast:
25	chr8:1804701..1806345-chr8:1808982..1810841,2	MCF-7	breast:
26	chr14:102430509..102431237-chr8:1771618..1772329,2	HCT-116	colon:
27	chr8:1791902..1793927-chr8:1800796..1802494,2	K562	blood:
28	chr8:1792966..1795761-chr8:1797297..1800005,2	MCF-7	breast:
29	chr8:1757521..1759166-chr8:1766213..1768564,2	K562	blood:
30	chr8:1711111..1712724-chr8:1772703..1775383,2	MCF-7	breast:
31	chr8:1791902..1793927-chr8:1800796..1802494,2	K562	blood:
32	chr8:1790802..1792919-chr8:1794714..1797248,2	K562	blood:
33	chr8:1731431..1734296-chr8:1777100..1779564,2	MCF-7	breast:
34	chr8:1766697..1768556-chr8:1771343..1773099,2	MCF-7	breast:
35	chr8:1771136..1772958-chr8:1777807..1779958,2	K562	blood:
36	chr8:1770343..1774803-chr8:1776185..1779512,9	MCF-7	breast:
37	chr8:1708451..1710291-chr8:1769924..1772142,2	K562	blood:
38	chr8:1770355..1772056-chr8:1783670..1785482,2	MCF-7	breast:
39	chr8:1769937..1771639-chr8:1774044..1776450,2	MCF-7	breast:
40	chr8:1772602..1774106-chr8:1775619..1777566,2	K562	blood:
41	chr8:1754619..1756376-chr8:1765622..1768454,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-596	chr8:1765412-1765432	MIMAT0003264

No data

Variant related genes	Relation type
ARHGEF10	TF binding region
MIR596	TF binding region
ARHGEF10	CpG island
MIR596	CpG island
ENSG00000182372	chromatin interactions
ENSG00000197102	chromatin interactions
ENSG00000183760	chromatin interactions
ENSG00000253982	chromatin interactions
ENSG00000207826	chromatin interactions
ENSG00000104728	chromatin interactions
LGALS3BP	Mature miRNA region

Extended variants
information (count: 3378 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:3378 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6980781	chr8:1765371-1765372	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369607161	chr8:1765372-1765373	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs373037875	chr8:1765379-1765380	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs376457976	chr8:1765382-1765383	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs113032322	chr8:1765387-1765388	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs371375383	chr8:1765388-1765389	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs373421110	chr8:1765390-1765391	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs377081929	chr8:1765395-1765396	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs113584779	chr8:1765396-1765397	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs372395112	chr8:1765402-1765403	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs116450906	chr8:1765409-1765410	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs367904474	chr8:1765422-1765423	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs61388742	chr8:1765425-1765426	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs565831588	chr8:1765433-1765434	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs111606748	chr8:1765435-1765436	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs375379855	chr8:1765461-1765462	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs375493018	chr8:1765486-1765487	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs574505163	chr8:1765487-1765488	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369442375	chr8:1765497-1765498	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs368535307	chr8:1765524-1765525	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs537319046	chr8:1765530-1765531	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185725737	chr8:1765540-1765541	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372919866	chr8:1765544-1765545	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs1123543	chr8:1765572-1765573	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs577327454	chr8:1765581-1765582	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373260882	chr8:1765594-1765595	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs527396386	chr8:1765610-1765611	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs546371310	chr8:1765651-1765652	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553650301	chr8:1765659-1765660	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs572954238	chr8:1765710-1765711	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs6558547	chr8:1765720-1765721	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561634331	chr8:1765753-1765754	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs530522734	chr8:1765758-1765759	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs544138070	chr8:1765759-1765760	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs564395717	chr8:1765773-1765774	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs575701237	chr8:1765796-1765797	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs73672970	chr8:1765804-1765805	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs533121237	chr8:1765818-1765819	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs546750311	chr8:1765843-1765844	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs147700573	chr8:1765847-1765848	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs528528226	chr8:1765850-1765851	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs549133771	chr8:1765859-1765860	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs568069397	chr8:1765869-1765870	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs545941529	chr8:1765882-1765883	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs537465593	chr8:1765884-1765885	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs6558548	chr8:1765898-1765899	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs191496882	chr8:1765940-1765941	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs573249174	chr8:1765974-1765975	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs553589833	chr8:1765986-1765987	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs6558549	chr8:1765990-1765991	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2427 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1762000-1771400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:1762800-1770200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:1763200-1771000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:1763400-1765600	Enhancers	Brain Cingulate Gyrus	brain
5	chr8:1763400-1770400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:1763600-1765400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:1764000-1771000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:1764200-1765800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:1764200-1768600	Enhancers	Lung	lung
10	chr8:1764400-1766000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:1764600-1766200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:1764800-1765400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:1764800-1765400	Bivalent Enhancer	NH-A	brain
14	chr8:1764800-1765600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr8:1764800-1765600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr8:1764800-1765600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr8:1764800-1765600	Flanking Active TSS	HMEC	breast
18	chr8:1764800-1765800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:1764800-1765800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr8:1764800-1765800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:1764800-1765800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
22	chr8:1764800-1766000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:1764800-1766000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr8:1764800-1766000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:1764800-1766000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:1764800-1766000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:1764800-1766200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr8:1764800-1766200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:1764800-1766200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:1764800-1766400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
31	chr8:1764800-1766600	Enhancers	Spleen	Spleen
32	chr8:1764800-1766800	Enhancers	Gastric	stomach
33	chr8:1765000-1765400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr8:1765000-1765400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:1765000-1765400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
36	chr8:1765000-1765400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr8:1765000-1765400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:1765000-1765400	Flanking Bivalent TSS/Enh	Liver	Liver
39	chr8:1765000-1765400	Active TSS	Brain Angular Gyrus	brain
40	chr8:1765000-1765400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
41	chr8:1765000-1765400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:1765000-1765400	Flanking Active TSS	Right Atrium	heart
43	chr8:1765000-1765600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:1765000-1765600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr8:1765000-1765600	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr8:1765000-1765600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr8:1765000-1765600	Flanking Active TSS	Esophagus	oesophagus
48	chr8:1765000-1765600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr8:1765000-1765600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr8:1765000-1765600	Bivalent/Poised TSS	Fetal Kidney	kidney

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