Variant report

Variant	nsv890367
Chromosome Location	chr8:11668153-11793529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4697)
CpG islands
(count:3051)
Chromatin interactive
region (count:125)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4697 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11671599-11671984	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11719967-11720499	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11722303-11722739	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:11743681-11743940	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:11754879-11755097	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:11670385-11670535	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:11736830-11737436	K562	blood:	n/a	n/a
8	ARID3A	chr8:11741338-11742065	K562	blood:	n/a	n/a
9	ARID3A	chr8:11758928-11760170	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:11711460-11711976	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:11720016-11720613	K562	blood:	n/a	n/a
12	ARID3A	chr8:11767366-11767469	HepG2	liver:	n/a	n/a
13	ARID3A	chr8:11746984-11747236	HepG2	liver:	n/a	n/a
14	ARID3A	chr8:11769447-11769628	K562	blood:	n/a	n/a
15	ARID3A	chr8:11710564-11710991	HepG2	liver:	n/a	n/a
16	ATF1	chr8:11719934-11720561	K562	blood:	n/a	n/a
17	ATF1	chr8:11677780-11678103	K562	blood:	n/a	n/a
18	ATF1	chr8:11736841-11737531	K562	blood:	n/a	n/a
19	ATF2	chr8:11718117-11718791	GM12878	blood:	n/a	n/a
20	ATF2	chr8:11716064-11716683	GM12878	blood:	n/a	n/a
21	ATF2	chr8:11735207-11736519	GM12878	blood:	n/a	n/a
22	ATF2	chr8:11739202-11739721	GM12878	blood:	n/a	n/a
23	ATF2	chr8:11724806-11725122	GM12878	blood:	n/a	n/a
24	ATF2	chr8:11754279-11755628	GM12878	blood:	n/a	n/a
25	ATF2	chr8:11718234-11718663	GM12878	blood:	n/a	n/a
26	ATF2	chr8:11759720-11760180	GM12878	blood:	n/a	n/a
27	ATF2	chr8:11739306-11739735	GM12878	blood:	n/a	n/a
28	ATF2	chr8:11724597-11725205	GM12878	blood:	n/a	n/a
29	ATF2	chr8:11754354-11755726	GM12878	blood:	n/a	n/a
30	ATF2	chr8:11704572-11705318	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF3	chr8:11720050-11720523	K562	blood:	n/a	n/a
32	ATF3	chr8:11725467-11725700	K562	blood:	n/a	n/a
33	ATF3	chr8:11711190-11711884	A549	lung:	n/a	chr8:11711746-11711755
34	ATF3	chr8:11711524-11711774	K562	blood:	n/a	chr8:11711746-11711755
35	ATF3	chr8:11759787-11760027	K562	blood:	n/a	n/a
36	ATF3	chr8:11711440-11711869	K562	blood:	n/a	chr8:11711746-11711755
37	ATF3	chr8:11686227-11686415	K562	blood:	n/a	n/a
38	ATF3	chr8:11725482-11725723	HepG2	liver:	n/a	n/a
39	BACH1	chr8:11743792-11743922	K562	blood:	n/a	n/a
40	BACH1	chr8:11766653-11766839	K562	blood:	n/a	n/a
41	BACH1	chr8:11720086-11720270	K562	blood:	n/a	n/a
42	BACH1	chr8:11729699-11729701	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr8:11741689-11742495	K562	blood:	n/a	n/a
44	BACH1	chr8:11671211-11671244	K562	blood:	n/a	n/a
45	BACH1	chr8:11759765-11760312	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr8:11791553-11791787	K562	blood:	n/a	n/a
47	BACH1	chr8:11741878-11742461	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr8:11754598-11755318	GM12878	blood:	n/a	n/a
49	BATF	chr8:11764476-11764781	GM12878	blood:	n/a	n/a
50	BATF	chr8:11739242-11739663	GM12878	blood:	n/a	n/a

(count:3051 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11772119-11772169	HUVEC	blood vessel:	n/a
2	chr8:11772119-11772169	HUVEC	blood vessel:	n/a
3	chr8:11759663-11759713	HMEC	breast:	n/a
4	chr8:11772215-11772265	GM12891	blood:	n/a
5	chr8:11725492-11725542	NH-A	brain:	n/a
6	chr8:11770970-11771020	PFSK-1	brain:	n/a
7	chr8:11759930-11759980	H1-hESC	embryonic stem cell:	embryo
8	chr8:11760136-11760186	HRCEpiC	kidney:	n/a
9	chr8:11760061-11760111	SK-N-MC	brain:	n/a
10	chr8:11755993-11756043	NHBE	bronchial:	n/a
11	chr8:11725596-11725646	HNPCEpiC	eye:	n/a
12	chr8:11772119-11772169	NT2-D1	testis:	n/a
13	chr8:11759665-11759715	SKMC	muscle:	n/a
14	chr8:11760061-11760111	BJ	skin:	n/a
15	chr8:11771345-11771395	Caco-2	colon:	n/a
16	chr8:11771498-11771548	Hela-S3	cervix:	n/a
17	chr8:11723816-11723866	HRPEpiC	eye:	n/a
18	chr8:11724777-11724827	SAEC	small airway:	n/a
19	chr8:11759863-11759913	HRPEpiC	eye:	n/a
20	chr8:11717853-11717903	NT2-D1	testis:	n/a
21	chr8:11696232-11696282	SK-N-MC	brain:	n/a
22	chr8:11790639-11790689	PFSK-1	brain:	n/a
23	chr8:11772568-11772618	CMK	blood:	n/a
24	chr8:11725599-11725649	NHBE	bronchial:	n/a
25	chr8:11760136-11760186	AG04449	skin:	fetal
26	chr8:11771498-11771548	LNCaP	prostate:	n/a
27	chr8:11760342-11760392	Jurkat	blood:	n/a
28	chr8:11772343-11772393	AG09319	gingival:	n/a
29	chr8:11760061-11760111	SK-N-SH_RA	brain:	n/a
30	chr8:11759930-11759980	SK-N-MC	brain:	n/a
31	chr8:11759665-11759715	HIPEpiC	eye:	n/a
32	chr8:11790639-11790689	SAEC	small airway:	n/a
33	chr8:11772568-11772618	HNPCEpiC	eye:	n/a
34	chr8:11715284-11715334	HRE	kidney:	n/a
35	chr8:11774497-11774547	Jurkat	blood:	n/a
36	chr8:11772119-11772169	MCF10A-Er-Src	breast:	n/a
37	chr8:11772734-11772784	Caco-2	colon:	n/a
38	chr8:11726043-11726093	Jurkat	blood:	n/a
39	chr8:11755993-11756043	HMEC	breast:	n/a
40	chr8:11756069-11756119	T-47D	breast:	n/a
41	chr8:11725306-11725356	MCF10A-Er-Src	breast:	n/a
42	chr8:11755993-11756043	AG04449	skin:	fetal
43	chr8:11790326-11790376	T-47D	breast:	n/a
44	chr8:11715284-11715334	NB4	blood:	n/a
45	chr8:11728558-11728608	PANC-1	pancreas:	n/a
46	chr8:11710911-11710961	SK-N-SH	brain:	n/a
47	chr8:11759665-11759715	AG04450	lung:	fetal
48	chr8:11726043-11726093	HRPEpiC	eye:	n/a
49	chr8:11772343-11772393	AG10803	skin:	n/a
50	chr8:11715284-11715334	GM12891	blood:	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:
2	chr8:11724948..11727474-chr8:11747087..11750082,2	MCF-7	breast:
3	chr8:11717778..11719934-chr8:11735920..11738113,2	MCF-7	breast:
4	chr20:58672783..58673686-chr8:11698085..11698795,2	NB4	blood:
5	chr8:11701711..11703998-chr8:11723479..11725596,2	K562	blood:
6	chr8:11724109..11726850-chr8:11734821..11736918,2	MCF-7	breast:
7	chr8:11710005..11711598-chr8:11715052..11717778,2	MCF-7	breast:
8	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
9	chr8:11666673..11669607-chr8:11678720..11681322,2	K562	blood:
10	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
11	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:
12	chr8:11732515..11734330-chr8:11735926..11737604,2	K562	blood:
13	chr8:11729883..11732100-chr8:11739868..11741394,2	K562	blood:
14	chr8:11759912..11760480-chr8:11816112..11816711,2	K562	blood:
15	chr8:11701610..11705224-chr8:11724505..11726759,3	MCF-7	breast:
16	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
17	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
18	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:
19	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
20	chr8:11727352..11730707-chr8:11734493..11737265,3	K562	blood:
21	chr8:11734290..11736871-chr8:11743194..11744743,2	K562	blood:
22	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
23	chr8:11724372..11727512-chr8:11735176..11737878,3	MCF-7	breast:
24	chr8:11718857..11721432-chr8:11753489..11755957,2	K562	blood:
25	chr8:11200722..11203684-chr8:11734586..11737466,2	K562	blood:
26	chr8:11701610..11705224-chr8:11724505..11726759,3	MCF-7	breast:
27	chr16:87902576..87903306-chr8:11724748..11725674,2	Hela-S3	cervix:
28	chr8:11659663..11662114-chr8:11670043..11672183,2	K562	blood:
29	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
30	chr11:62608950..62609596-chr8:11725047..11725738,2	HCT-116	colon:
31	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
32	chr8:11724192..11726313-chr8:11753136..11754724,2	MCF-7	breast:
33	chr8:11740192..11742116-chr8:11742160..11745016,2	K562	blood:
34	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
35	chr8:11744571..11746987-chr8:11757045..11759456,2	MCF-7	breast:
36	chr8:11683203..11685176-chr8:11688978..11690552,2	K562	blood:
37	chr8:11695946..11697771-chr8:11722616..11724742,2	MCF-7	breast:
38	chr8:11724112..11726454-chr8:11732632..11735297,3	K562	blood:
39	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
40	chr8:11746436..11748896-chr8:11754900..11757322,2	K562	blood:
41	chr8:11723128..11726794-chr8:11729764..11731890,4	MCF-7	breast:
42	chr8:11702698..11703665-chr8:11759456..11760160,2	MCF-7	breast:
43	chr8:11718467..11721222-chr8:11754378..11756104,3	K562	blood:
44	chr8:11742257..11745256-chr8:11747591..11749952,2	K562	blood:
45	chr8:11731939..11733861-chr8:11735868..11738030,2	K562	blood:
46	chr8:11718857..11721432-chr8:11753489..11755957,2	K562	blood:
47	chr8:11768991..11769997-chr8:11800815..11801744,4	MCF-7	breast:
48	chr8:11706290..11708186-chr8:11724044..11726922,3	MCF-7	breast:
49	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
50	chr8:11658066..11660009-chr8:11744623..11746128,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSB-1	chr8:11753359-11753626	NONHSAT125100
2	lnc-RP11-297N6.4.1-2	chr8:11703663-11703900	ENSG00000269899.1
3	lnc-FDFT1-1	chr8:11701603-11702070	expReg_chr8_457_+
4	lnc-CTSB-1	chr8:11754271-11754379	NONHSAT125100
5	lnc-CTSB-2	chr8:11777409-11778318	NONHSAT125102

No data

Variant related genes	Relation type
CTSB	TF binding region
OR7E161P	TF binding region
ENSG00000269899	TF binding region
FDFT1	TF binding region
OR7E158P	TF binding region
ENSG00000255144	TF binding region
CTSB	CpG island
OR7E161P	CpG island
ENSG00000269899	CpG island
FDFT1	CpG island
OR7E158P	CpG island
ENSG00000255144	CpG island
ENSG00000079459	chromatin interactions
ENSG00000103257	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000070961	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000154328	chromatin interactions
ENSG00000255144	chromatin interactions
ENSG00000269899	chromatin interactions
ENSG00000164733	chromatin interactions

Extended variants
information (count: 8585 )
Associated
traits (count: 148 )

Variant overlapped rSNPs/rCNVs (count:8585 , 50 per page) page: 1 2 3 4 5 6 7 ... 172

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1534863	chr8:11668153-11668154	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2280943	chr8:11668164-11668165	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs372575649	chr8:11668176-11668177	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117679783	chr8:11668179-11668180	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567629046	chr8:11668196-11668197	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566969407	chr8:11668202-11668203	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1060692	chr8:11668205-11668206	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552591873	chr8:11668218-11668219	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114944193	chr8:11668227-11668228	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549359978	chr8:11668276-11668277	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs74617014	chr8:11668277-11668278	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538236312	chr8:11668283-11668284	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs578161480	chr8:11668284-11668285	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540579569	chr8:11668291-11668292	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576252550	chr8:11668347-11668348	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556945069	chr8:11668363-11668364	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs578245093	chr8:11668387-11668388	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539256852	chr8:11668415-11668416	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs1298522	chr8:11668418-11668419	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71539744	chr8:11668443-11668444	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs140271861	chr8:11668467-11668468	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527825595	chr8:11668468-11668469	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371018933	chr8:11668486-11668487	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs143598207	chr8:11668491-11668492	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572917295	chr8:11668508-11668509	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs186288835	chr8:11668513-11668514	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs116029625	chr8:11668528-11668529	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573347882	chr8:11668549-11668550	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs6993946	chr8:11668559-11668560	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562474641	chr8:11668588-11668589	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529533204	chr8:11668595-11668596	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533042460	chr8:11668596-11668597	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551572331	chr8:11668598-11668599	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549074783	chr8:11668609-11668610	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189154434	chr8:11668624-11668625	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs199857769	chr8:11668639-11668640	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12680858	chr8:11668660-11668661	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs151048647	chr8:11668664-11668665	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs558287296	chr8:11668668-11668669	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs567760925	chr8:11668690-11668691	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs181647267	chr8:11668704-11668705	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551401028	chr8:11668715-11668716	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs77123056	chr8:11668751-11668752	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs55819454	chr8:11668752-11668753	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534062864	chr8:11668764-11668765	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1736108	chr8:11668767-11668768	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs114781197	chr8:11668784-11668785	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs536849514	chr8:11668794-11668795	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs567104145	chr8:11668802-11668803	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540692831	chr8:11668847-11668848	Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:148)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	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
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Honadal dysgenesis	21408189	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4379 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:11666400-11669000	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr8:11666400-11670400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:11666400-11671400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:11666600-11669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:11666600-11670400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:11666600-11671200	Weak transcription	Small Intestine	intestine
9	chr8:11666800-11668200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:11666800-11668200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:11666800-11668200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:11666800-11668200	Genic enhancers	HMEC	breast
13	chr8:11666800-11669000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:11666800-11669200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:11666800-11669600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr8:11666800-11669600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11666800-11670800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:11666800-11670800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:11666800-11673000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:11666800-11673600	Strong transcription	Fetal Thymus	thymus
21	chr8:11667000-11668200	Genic enhancers	NHEK	skin
22	chr8:11667000-11668400	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr8:11667000-11669000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:11667000-11669000	Enhancers	Stomach Mucosa	stomach
25	chr8:11667000-11669400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:11667000-11669400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:11667000-11670000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:11667000-11670200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:11667000-11670800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:11667000-11670800	Strong transcription	GM12878-XiMat	blood
31	chr8:11667000-11671200	Strong transcription	Hela-S3	cervix
32	chr8:11667000-11671600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:11667000-11672000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:11667000-11672000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:11667000-11672000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr8:11667000-11672000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:11667000-11672000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:11667000-11672200	Strong transcription	A549	lung
39	chr8:11667000-11672200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:11667000-11672400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:11667000-11673000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:11667200-11668200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:11667200-11668200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:11667200-11668200	Strong transcription	Fetal Intestine Small	intestine
46	chr8:11667200-11668200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
47	chr8:11667200-11668200	Transcr. at gene 5' and 3'	HepG2	liver
48	chr8:11667200-11669600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:11667200-11670400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:11667200-11670600	Genic enhancers	Rectal Mucosa Donor 31	rectum

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