Variant report

Variant	nsv1024685
Chromosome Location	chr8:6575334-6622685
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1241)
CpG islands
(count:305)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 4)
miRNA target
sites (count:2)

(count:1241 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:6591838-6592286	K562	blood:	n/a	n/a
2	ARID3A	chr8:6593915-6594204	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:6593033-6593042	K562	blood:	n/a	n/a
4	ATF1	chr8:6604663-6604977	K562	blood:	n/a	n/a
5	ATF1	chr8:6599989-6600070	K562	blood:	n/a	n/a
6	ATF1	chr8:6593974-6594135	K562	blood:	n/a	n/a
7	ATF1	chr8:6603608-6603919	K562	blood:	n/a	n/a
8	ATF1	chr8:6619110-6619289	K562	blood:	n/a	n/a
9	ATF1	chr8:6590652-6590847	K562	blood:	n/a	n/a
10	ATF2	chr8:6593729-6595295	GM12878	blood:	n/a	n/a
11	ATF2	chr8:6605081-6606581	GM12878	blood:	n/a	n/a
12	ATF2	chr8:6603578-6604618	GM12878	blood:	n/a	n/a
13	ATF2	chr8:6605417-6606582	GM12878	blood:	n/a	n/a
14	ATF2	chr8:6602589-6603424	GM12878	blood:	n/a	n/a
15	ATF2	chr8:6607857-6608319	GM12878	blood:	n/a	n/a
16	ATF2	chr8:6598036-6599182	GM12878	blood:	n/a	n/a
17	ATF2	chr8:6589235-6591195	GM12878	blood:	n/a	n/a
18	ATF2	chr8:6578038-6578738	GM12878	blood:	n/a	n/a
19	ATF2	chr8:6598063-6599482	GM12878	blood:	n/a	n/a
20	ATF2	chr8:6578148-6578664	GM12878	blood:	n/a	n/a
21	ATF2	chr8:6575602-6576081	GM12878	blood:	n/a	n/a
22	ATF2	chr8:6593834-6595236	GM12878	blood:	n/a	n/a
23	ATF2	chr8:6586687-6587569	GM12878	blood:	n/a	n/a
24	ATF2	chr8:6603511-6604665	GM12878	blood:	n/a	n/a
25	ATF2	chr8:6607587-6608461	GM12878	blood:	n/a	n/a
26	BACH1	chr8:6592046-6592576	K562	blood:	n/a	n/a
27	BATF	chr8:6598651-6598937	GM12878	blood:	n/a	chr8:6598865-6598876
28	BATF	chr8:6581001-6581230	GM12878	blood:	n/a	n/a
29	BATF	chr8:6605426-6606472	GM12878	blood:	n/a	n/a
30	BATF	chr8:6594159-6594716	GM12878	blood:	n/a	n/a
31	BATF	chr8:6603941-6604341	GM12878	blood:	n/a	n/a
32	BATF	chr8:6602780-6603006	GM12878	blood:	n/a	n/a
33	BATF	chr8:6598644-6599026	GM12878	blood:	n/a	chr8:6598865-6598876
34	BATF	chr8:6607956-6608256	GM12878	blood:	n/a	chr8:6608136-6608147
35	BATF	chr8:6589285-6589642	GM12878	blood:	n/a	n/a
36	BATF	chr8:6578278-6578583	GM12878	blood:	n/a	n/a
37	BATF	chr8:6580945-6581278	GM12878	blood:	n/a	n/a
38	BATF	chr8:6605533-6606271	GM12878	blood:	n/a	n/a
39	BATF	chr8:6607961-6608274	GM12878	blood:	n/a	chr8:6608136-6608147
40	BCL11A	chr8:6603981-6604304	GM12878	blood:	n/a	n/a
41	BCL11A	chr8:6605782-6606332	GM12878	blood:	n/a	n/a
42	BCL11A	chr8:6603921-6604336	GM12878	blood:	n/a	n/a
43	BCL11A	chr8:6598609-6599069	GM12878	blood:	n/a	chr8:6598663-6598671
44	BCL11A	chr8:6605888-6606301	GM12878	blood:	n/a	n/a
45	BCL3	chr8:6605907-6606407	GM12878	blood:	n/a	n/a
46	BCL3	chr8:6603524-6604480	GM12878	blood:	n/a	n/a
47	BCL3	chr8:6619064-6619423	GM12878	blood:	n/a	n/a
48	BCL3	chr8:6618346-6618903	GM12878	blood:	n/a	n/a
49	BCL3	chr8:6598109-6599048	GM12878	blood:	n/a	chr8:6598225-6598233 chr8:6598663-6598671
50	BCL3	chr8:6585169-6585673	GM12878	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6578451-6578501	PrEC	prostate:	n/a
2	chr8:6616240-6616290	LNCaP	prostate:	n/a
3	chr8:6590103-6590153	SK-N-MC	brain:	n/a
4	chr8:6616240-6616290	ProgFib	skin:	n/a
5	chr8:6578451-6578501	Jurkat	blood:	n/a
6	chr8:6590103-6590153	HL-60	blood:	n/a
7	chr8:6578451-6578501	NHDF-neo	bronchial:	n/a
8	chr8:6584320-6584370	ECC-1	luminal epithelium:	n/a
9	chr8:6590103-6590153	MCF10A-Er-Src	breast:	n/a
10	chr8:6607096-6607146	HepG2	liver:	n/a
11	chr8:6584320-6584370	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:6607096-6607146	K562	blood:	n/a
13	chr8:6590103-6590153	HAEpiC	amniotic membrane:	n/a
14	chr8:6578451-6578501	BE2_C	brain:	n/a
15	chr8:6607096-6607146	HCT-116	colon:	n/a
16	chr8:6584320-6584370	HEEpiC	esophagus:	n/a
17	chr8:6578451-6578501	HRCEpiC	kidney:	n/a
18	chr8:6616240-6616290	HepG2	liver:	n/a
19	chr8:6578451-6578501	PFSK-1	brain:	n/a
20	chr8:6607096-6607146	SK-N-SH	brain:	n/a
21	chr8:6590103-6590153	GM06990	blood:	n/a
22	chr8:6578451-6578501	H1-hESC	embryonic stem cell:	embryo
23	chr8:6578451-6578501	AG09319	gingival:	n/a
24	chr8:6578451-6578501	PANC-1	pancreas:	n/a
25	chr8:6607096-6607146	Jurkat	blood:	n/a
26	chr8:6578451-6578501	HMEC	breast:	n/a
27	chr8:6590103-6590153	HRE	kidney:	n/a
28	chr8:6616240-6616290	GM12878	blood:	n/a
29	chr8:6607096-6607146	SKMC	muscle:	n/a
30	chr8:6607096-6607146	HL-60	blood:	n/a
31	chr8:6584320-6584370	A549	lung:	n/a
32	chr8:6607096-6607146	GM19239	blood:	n/a
33	chr8:6590103-6590153	HIPEpiC	eye:	n/a
34	chr8:6584320-6584370	Caco-2	colon:	n/a
35	chr8:6584320-6584370	HAEpiC	amniotic membrane:	n/a
36	chr8:6607096-6607146	AG10803	skin:	n/a
37	chr8:6578451-6578501	HAEpiC	amniotic membrane:	n/a
38	chr8:6616240-6616290	SK-N-MC	brain:	n/a
39	chr8:6578451-6578501	SKMC	muscle:	n/a
40	chr8:6584320-6584370	MCF-7	breast:	n/a
41	chr8:6616240-6616290	Caco-2	colon:	n/a
42	chr8:6616240-6616290	SK-N-SH	brain:	n/a
43	chr8:6616240-6616290	PFSK-1	brain:	n/a
44	chr8:6584320-6584370	HRPEpiC	eye:	n/a
45	chr8:6578451-6578501	Hela-S3	cervix:	n/a
46	chr8:6578451-6578501	T-47D	breast:	n/a
47	chr8:6590103-6590153	PANC-1	pancreas:	n/a
48	chr8:6578451-6578501	HUVEC	blood vessel:	n/a
49	chr8:6584320-6584370	RPTEC	kidney:	n/a
50	chr8:6616240-6616290	BJ	skin:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:6597735..6600061-chr8:6602285..6603916,2	K562	blood:
2	chr8:6592860..6594827-chr8:6613486..6615924,2	K562	blood:
3	chr8:6565954..6567962-chr8:6615046..6617688,2	MCF-7	breast:
4	chr8:6582565..6584469-chr8:6589315..6591124,2	K562	blood:
5	chr8:6607794..6609928-chr8:6615547..6617505,2	K562	blood:
6	chr8:6611127..6614111-chr8:6622558..6624874,3	K562	blood:
7	chr8:6602850..6605858-chr8:6622259..6624724,3	K562	blood:
8	chr8:6592860..6594827-chr8:6613486..6615924,2	K562	blood:
9	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
10	chr8:6606644..6610344-chr8:6611897..6613643,3	K562	blood:
11	chr8:6585827..6588340-chr8:6594448..6598218,3	K562	blood:
12	chr8:6607794..6615120-chr8:6615384..6621792,7	K562	blood:
13	chr8:6566186..6568939-chr8:6596662..6599054,2	K562	blood:
14	chr8:6582711..6584334-chr8:6584335..6586041,2	K562	blood:
15	chr8:6620981..6623337-chr8:6643154..6645931,2	K562	blood:
16	chr8:6590798..6593095-chr8:6599894..6603696,3	K562	blood:
17	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
18	chr8:6573541..6575305-chr8:6575428..6577038,2	MCF-7	breast:
19	chr8:6585357..6588723-chr8:6589806..6592858,3	K562	blood:
20	chr8:6567971..6570094-chr8:6598474..6600229,2	MCF-7	breast:
21	chr8:6566350..6569285-chr8:6617437..6619402,3	K562	blood:
22	chr8:6579053..6581015-chr8:6588545..6590944,2	MCF-7	breast:
23	chr8:6607794..6615120-chr8:6615384..6621792,7	K562	blood:
24	chr8:6588695..6590536-chr8:6600051..6602655,2	K562	blood:
25	chr8:6586318..6588340-chr8:6595222..6598218,2	K562	blood:
26	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:
27	chr8:6611127..6614111-chr8:6622558..6624874,3	K562	blood:
28	chr8:6606705..6609597-chr8:6613259..6614827,2	MCF-7	breast:
29	chr8:6446751..6448341-chr8:6576807..6578488,2	K562	blood:
30	chr8:6582565..6584469-chr8:6589315..6591124,2	K562	blood:
31	chr8:6563956..6568156-chr8:6584449..6592281,7	MCF-7	breast:
32	chr8:6565037..6567895-chr8:6594661..6596413,3	K562	blood:
33	chr8:6277390..6279333-chr8:6576770..6578776,2	K562	blood:
34	chr8:6591889..6594476-chr8:6597879..6600037,2	K562	blood:
35	chr8:6574218..6576564-chr8:6656497..6658337,2	MCF-7	breast:
36	chr8:6564202..6566167-chr8:6580653..6582845,2	MCF-7	breast:
37	chr8:6599982..6602486-chr8:6610540..6612172,2	K562	blood:
38	chr8:6606705..6609597-chr8:6613259..6614827,2	MCF-7	breast:
39	chr8:6585868..6588138-chr8:6590976..6594012,3	K562	blood:
40	chr8:6615680..6618356-chr8:6619972..6621517,2	K562	blood:
41	chr8:6603115..6605029-chr8:6610230..6612047,3	K562	blood:
42	chr8:6589795..6592287-chr8:6621682..6624107,2	K562	blood:
43	chr8:6545858..6548126-chr8:6615946..6617987,2	K562	blood:
44	chr8:6264061..6265745-chr8:6605716..6608202,2	K562	blood:
45	chr8:6585357..6588723-chr8:6589806..6592858,3	K562	blood:
46	chr10:73610594..73611122-chr8:6575143..6576143,2	NB4	blood:
47	chr8:6476060..6478996-chr8:6610038..6612877,2	K562	blood:
48	chr8:6585868..6588138-chr8:6590976..6594012,3	K562	blood:
49	chr8:6563873..6566022-chr8:6598968..6601067,2	K562	blood:
50	chr8:6588695..6590536-chr8:6600051..6602655,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4659a-5p	chr8:6602698-6602719	MIMAT0019726
hsa-miR-4659b-3p	chr8:6602696-6602717	MIMAT0019734
hsa-miR-4659a-3p	chr8:6602733-6602754	MIMAT0019727
hsa-miR-4659b-5p	chr8:6602734-6602752	MIMAT0019733

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AGPAT5	hsa-miR-192-5p	chr8:6618563-6618583
2	AGPAT5	hsa-miR-15b-5p	chr8:6617093-6617116

Variant related genes	Relation type
AGPAT5	TF binding region
MIR4659B	TF binding region
AGPAT5	CpG island
MIR4659B	CpG island
ENSG00000249898	chromatin interactions
ENSG00000155189	chromatin interactions
ENSG00000147316	chromatin interactions
ENSG00000266038	chromatin interactions
ENSG00000246089	chromatin interactions
ENSG00000197746	chromatin interactions

Extended variants
information (count: 2798 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:2798 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2928623	chr8:6575334-6575335	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184035327	chr8:6575357-6575358	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527989211	chr8:6575362-6575363	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs28759314	chr8:6575430-6575431	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs570958012	chr8:6575436-6575437	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187108652	chr8:6575478-6575479	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145529599	chr8:6575502-6575503	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs193184025	chr8:6575513-6575514	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2911981	chr8:6575518-6575519	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566071629	chr8:6575550-6575551	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554289826	chr8:6575563-6575564	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574341342	chr8:6575589-6575590	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148062979	chr8:6575592-6575593	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71525761	chr8:6575664-6575665	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376598691	chr8:6575682-6575683	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10503366	chr8:6575683-6575684	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185153088	chr8:6575714-6575715	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554580826	chr8:6575751-6575752	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562330774	chr8:6575794-6575795	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576160123	chr8:6575798-6575799	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35733372	chr8:6575805-6575806	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7357377	chr8:6575813-6575814	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536093556	chr8:6575834-6575835	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114463582	chr8:6575838-6575839	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190794391	chr8:6575855-6575856	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140805140	chr8:6575865-6575866	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540445472	chr8:6575915-6575916	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533650188	chr8:6575923-6575924	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550424253	chr8:6575925-6575926	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs570234925	chr8:6575933-6575934	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377232378	chr8:6575964-6575965	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537955592	chr8:6575968-6575969	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548228714	chr8:6575984-6575985	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567967750	chr8:6576001-6576002	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200742691	chr8:6576033-6576034	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201770225	chr8:6576034-6576035	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs66467004	chr8:6576036-6576037	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533832126	chr8:6576051-6576052	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553481765	chr8:6576066-6576067	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576763687	chr8:6576069-6576070	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150153267	chr8:6576076-6576077	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575788695	chr8:6576082-6576083	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541958851	chr8:6576084-6576085	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562254717	chr8:6576086-6576087	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572436612	chr8:6576087-6576088	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1559743	chr8:6576096-6576097	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544909289	chr8:6576111-6576112	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558598629	chr8:6576114-6576115	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs181945650	chr8:6576115-6576116	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs183622815	chr8:6576160-6576161	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1670 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6566800-6575800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:6566800-6575800	Weak transcription	Spleen	Spleen
3	chr8:6567000-6575600	Weak transcription	Gastric	stomach
4	chr8:6567000-6578000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:6567000-6580200	Weak transcription	Right Ventricle	heart
6	chr8:6567400-6575600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:6567400-6578000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:6567400-6586800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:6567400-6590000	Weak transcription	Left Ventricle	heart
10	chr8:6567400-6590200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:6567400-6590600	Weak transcription	Psoas Muscle	Psoas
12	chr8:6567400-6590800	Weak transcription	Pancreas	Pancrea
13	chr8:6567400-6592600	Weak transcription	Aorta	Aorta
14	chr8:6567600-6575600	Weak transcription	Fetal Stomach	stomach
15	chr8:6567600-6575600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:6567600-6577400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:6567600-6585400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:6567600-6586400	Weak transcription	Osteobl	bone
19	chr8:6567600-6589400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:6567800-6575800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:6567800-6575800	Weak transcription	Fetal Intestine Large	intestine
22	chr8:6567800-6585400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:6567800-6585400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:6567800-6589200	Weak transcription	Brain Substantia Nigra	brain
25	chr8:6567800-6590000	Weak transcription	NHLF	lung
26	chr8:6568000-6575400	Weak transcription	Fetal Lung	lung
27	chr8:6568000-6575600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr8:6568000-6575600	Weak transcription	Fetal Heart	heart
29	chr8:6568000-6577600	Weak transcription	NH-A	brain
30	chr8:6568000-6585400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:6568000-6586200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:6568000-6589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:6568000-6603400	Weak transcription	Fetal Brain Male	brain
34	chr8:6568200-6575400	Weak transcription	NHEK	skin
35	chr8:6568200-6575800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:6568400-6575600	Weak transcription	Fetal Brain Female	brain
37	chr8:6568400-6575600	Weak transcription	HSMM	muscle
38	chr8:6568400-6577400	Weak transcription	HUVEC	blood vessel
39	chr8:6568400-6589800	Weak transcription	HSMMtube	muscle
40	chr8:6568400-6590400	Weak transcription	Brain Germinal Matrix	brain
41	chr8:6569000-6575600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:6569400-6575600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:6569400-6575600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:6569400-6575800	Weak transcription	Lung	lung
45	chr8:6569400-6585400	Weak transcription	Esophagus	oesophagus
46	chr8:6569600-6576200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:6569600-6578000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:6570200-6575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:6571400-6577400	Weak transcription	Placenta	Placenta
50	chr8:6571400-6587200	Weak transcription	Small Intestine	intestine

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