Variant report

Variant	nsv1032739
Chromosome Location	chr8:11643803-11716473
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3268)
CpG islands
(count:2078)
Chromatin interactive
region (count:102)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3268 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11666175-11666691	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11711460-11711976	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11657809-11657977	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:11671599-11671984	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:11645370-11645579	K562	blood:	n/a	n/a
6	ARID3A	chr8:11660241-11660402	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:11670385-11670535	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:11656441-11656736	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:11710564-11710991	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:11659764-11660172	K562	blood:	n/a	n/a
11	ARID3A	chr8:11656609-11656929	K562	blood:	n/a	n/a
12	ARID3A	chr8:11659794-11660028	HepG2	liver:	n/a	n/a
13	ARID3A	chr8:11660655-11661419	K562	blood:	n/a	n/a
14	ATF1	chr8:11677780-11678103	K562	blood:	n/a	n/a
15	ATF1	chr8:11656586-11657065	K562	blood:	n/a	n/a
16	ATF2	chr8:11659666-11660052	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr8:11704572-11705318	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr8:11716064-11716683	GM12878	blood:	n/a	n/a
19	ATF3	chr8:11711190-11711884	A549	lung:	n/a	chr8:11711746-11711755
20	ATF3	chr8:11711440-11711869	K562	blood:	n/a	chr8:11711746-11711755
21	ATF3	chr8:11686227-11686415	K562	blood:	n/a	n/a
22	ATF3	chr8:11711524-11711774	K562	blood:	n/a	chr8:11711746-11711755
23	BACH1	chr8:11660680-11660740	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr8:11659730-11660126	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr8:11671211-11671244	K562	blood:	n/a	n/a
26	BACH1	chr8:11662812-11663108	K562	blood:	n/a	n/a
27	BACH1	chr8:11666079-11666400	H1-hESC	embryonic stem cell:	n/a	n/a
28	BATF	chr8:11656623-11656908	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:11716227-11716542	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:11716165-11716612	GM12878	blood:	n/a	n/a
31	BCL3	chr8:11697919-11698258	K562	blood:	n/a	n/a
32	BCL3	chr8:11699609-11700117	A549	lung:	n/a	n/a
33	BCL3	chr8:11659384-11660037	A549	lung:	n/a	n/a
34	BCL3	chr8:11706000-11706740	GM12878	blood:	n/a	n/a
35	BCL3	chr8:11705132-11705635	K562	blood:	n/a	n/a
36	BCL3	chr8:11701138-11705117	K562	blood:	n/a	n/a
37	BCL3	chr8:11700687-11701096	K562	blood:	n/a	n/a
38	BCL3	chr8:11704974-11705270	GM12878	blood:	n/a	n/a
39	BCL3	chr8:11685767-11686031	K562	blood:	n/a	n/a
40	BCLAF1	chr8:11661566-11662077	GM12878	blood:	n/a	n/a
41	BCLAF1	chr8:11716093-11716697	GM12878	blood:	n/a	n/a
42	BHLHE40	chr8:11706613-11706766	K562	blood:	n/a	n/a
43	BHLHE40	chr8:11659800-11661056	K562	blood:	n/a	chr8:11660162-11660178 chr8:11660194-11660210
44	BHLHE40	chr8:11702375-11702406	K562	blood:	n/a	n/a
45	BHLHE40	chr8:11645335-11645718	K562	blood:	n/a	n/a
46	BHLHE40	chr8:11677905-11678135	K562	blood:	n/a	n/a
47	BHLHE40	chr8:11662399-11662624	GM12878	blood:	n/a	n/a
48	BHLHE40	chr8:11654927-11655030	K562	blood:	n/a	n/a
49	BHLHE40	chr8:11710506-11711068	HepG2	liver:	n/a	n/a
50	BHLHE40	chr8:11662425-11662689	HepG2	liver:	n/a	n/a

(count:2078 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11666017-11666067	CMK	blood:	n/a
2	chr8:11666485-11666535	BE2_C	brain:	n/a
3	chr8:11652356-11652406	MCF-7	breast:	n/a
4	chr8:11653368-11653418	HepG2	liver:	n/a
5	chr8:11666017-11666067	CMK	blood:	n/a
6	chr8:11666485-11666535	BE2_C	brain:	n/a
7	chr8:11652356-11652406	MCF-7	breast:	n/a
8	chr8:11653368-11653418	HepG2	liver:	n/a
9	chr8:11701719-11701769	HL-60	blood:	n/a
10	chr8:11653276-11653326	HUVEC	blood vessel:	n/a
11	chr8:11652356-11652406	HIPEpiC	eye:	n/a
12	chr8:11653276-11653326	HMEC	breast:	n/a
13	chr8:11666485-11666535	GM12878	blood:	n/a
14	chr8:11660209-11660259	AG04449	skin:	fetal
15	chr8:11659497-11659547	AG04450	lung:	fetal
16	chr8:11665962-11666012	BE2_C	brain:	n/a
17	chr8:11659832-11659882	HL-60	blood:	n/a
18	chr8:11666485-11666535	HCPEpiC	choroid plexus:	n/a
19	chr8:11668491-11668541	HCF	heart:	n/a
20	chr8:11696232-11696282	AG09309	skin:	n/a
21	chr8:11653368-11653418	MCF-7	breast:	n/a
22	chr8:11666017-11666067	HMEC	breast:	n/a
23	chr8:11665843-11665893	ECC-1	luminal epithelium:	n/a
24	chr8:11665969-11666019	PrEC	prostate:	n/a
25	chr8:11660733-11660783	CMK	blood:	n/a
26	chr8:11653435-11653485	GM06990	blood:	n/a
27	chr8:11660089-11660139	BE2_C	brain:	n/a
28	chr8:11653276-11653326	GM12891	blood:	n/a
29	chr8:11660030-11660080	ProgFib	skin:	n/a
30	chr8:11660089-11660139	NB4	blood:	n/a
31	chr8:11659497-11659547	CMK	blood:	n/a
32	chr8:11668491-11668541	HRPEpiC	eye:	n/a
33	chr8:11653276-11653326	RPTEC	kidney:	n/a
34	chr8:11664728-11664778	AG04450	lung:	fetal
35	chr8:11660030-11660080	MCF10A-Er-Src	breast:	n/a
36	chr8:11653368-11653418	PrEC	prostate:	n/a
37	chr8:11670382-11670432	U87	brain:	n/a
38	chr8:11660614-11660664	MCF-7	breast:	n/a
39	chr8:11653435-11653485	GM12892	blood:	n/a
40	chr8:11679319-11679369	PrEC	prostate:	n/a
41	chr8:11644644-11644694	HAEpiC	amniotic membrane:	n/a
42	chr8:11660209-11660259	PrEC	prostate:	n/a
43	chr8:11646810-11646860	HRPEpiC	eye:	n/a
44	chr8:11660109-11660159	AoSMC	blood vessel:	n/a
45	chr8:11701719-11701769	SKMC	muscle:	n/a
46	chr8:11652174-11652224	PrEC	prostate:	n/a
47	chr8:11659961-11660011	H1-hESC	embryonic stem cell:	embryo
48	chr8:11659832-11659882	RPTEC	kidney:	n/a
49	chr8:11660109-11660159	BJ	skin:	n/a
50	chr8:11660614-11660664	CMK	blood:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:11660132..11662159-chr8:11687088..11688698,2	MCF-7	breast:
2	chr8:11701610..11705224-chr8:11724505..11726759,3	MCF-7	breast:
3	chr8:11649932..11653064-chr8:11653128..11655366,3	K562	blood:
4	chr8:11647649..11650731-chr8:11658511..11661458,3	K562	blood:
5	chr8:11659663..11662114-chr8:11670043..11672183,2	K562	blood:
6	chr8:11715679..11717977-chr8:11719165..11721934,2	MCF-7	breast:
7	chr11:2398309..2399006-chr8:11659548..11660515,2	HCT-116	colon:
8	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:
9	chr8:11643528..11645314-chr8:11650082..11652912,2	MCF-7	breast:
10	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
11	chr8:11677189..11679307-chr8:11682950..11685513,2	K562	blood:
12	chr8:11652965..11656305-chr8:11661939..11664556,3	K562	blood:
13	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
14	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
15	chr8:11653668..11656600-chr8:11658872..11661623,3	MCF-7	breast:
16	chr8:11682570..11685131-chr8:11702411..11705156,2	K562	blood:
17	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
18	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:
19	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
20	chr8:11659426..11661474-chr8:11724613..11726870,3	MCF-7	breast:
21	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
22	chr8:11662802..11665653-chr8:11685244..11688002,2	K562	blood:
23	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:
24	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
25	chr20:58672783..58673686-chr8:11698085..11698795,2	NB4	blood:
26	chr8:11639903..11643106-chr8:11643341..11646162,3	K562	blood:
27	chr8:11710201..11712259-chr8:11713212..11714755,2	MCF-7	breast:
28	chr8:11653120..11657894-chr8:11659261..11661744,5	K562	blood:
29	chr8:11690076..11692407-chr8:11692416..11694501,3	K562	blood:
30	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:
31	chr8:11643528..11645314-chr8:11650082..11652912,2	MCF-7	breast:
32	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:
33	chr8:11644178..11646906-chr8:11648968..11651779,2	K562	blood:
34	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
35	chr8:11706164..11707709-chr8:11709253..11711783,2	K562	blood:
36	chr8:11689387..11691686-chr8:11696731..11698715,2	K562	blood:
37	chr8:11710197..11714536-chr8:11724997..11727273,4	K562	blood:
38	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:
39	chr8:11714135..11717431-chr8:11717814..11720890,3	K562	blood:
40	chr8:11658317..11661287-chr8:11697246..11700186,2	K562	blood:
41	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
42	chr8:11650636..11652578-chr8:11653838..11655597,2	K562	blood:
43	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
44	chr8:11710005..11711598-chr8:11715052..11717778,2	MCF-7	breast:
45	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
46	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:
47	chr8:11663591..11666285-chr8:11668539..11672798,5	K562	blood:
48	chr8:11648977..11652066-chr8:11653536..11656484,3	MCF-7	breast:
49	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
50	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEIL2-2	chr8:11660814-11661009	NONHSAT125087
2	lnc-RP11-297N6.4.1-1	chr8:11655437-11655656	NONHSAT125085
3	lnc-NEIL2-2	chr8:11660604-11660734	NONHSAT125087
4	lnc-RP11-297N6.4.1-1	chr8:11659431-11660021	NONHSAT125085
5	lnc-FDFT1-1	chr8:11701603-11702070	expReg_chr8_457_+
6	lnc-RP11-297N6.4.1-2	chr8:11703663-11703900	ENSG00000269899.1
7	lnc-NEIL2-1	chr8:11647514-11647897	NONHSAT125082
8	lnc-NEIL2-1	chr8:11647514-11647895	NONHSAT125083

No data

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000255046	TF binding region
ENSG00000269899	TF binding region
SUB1P1	TF binding region
FDFT1	TF binding region
CTSB	CpG island
ENSG00000255046	CpG island
ENSG00000269899	CpG island
SUB1P1	CpG island
FDFT1	CpG island
ENSG00000269899	chromatin interactions
ENSG00000226200	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000198964	chromatin interactions
ENSG00000110651	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000154328	chromatin interactions
ENSG00000079459	chromatin interactions
ENSG00000227203	chromatin interactions
ENSG00000111802	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000112304	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000066379	chromatin interactions
ENSG00000255394	chromatin interactions

Extended variants
information (count: 6194 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:6194 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1534862	chr8:11643803-11643804	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556221801	chr8:11643804-11643805	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186757254	chr8:11643808-11643809	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538617759	chr8:11643815-11643816	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112384557	chr8:11643816-11643817	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568493469	chr8:11643821-11643822	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554460603	chr8:11643830-11643831	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200816367	chr8:11643831-11643832	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188666836	chr8:11643847-11643848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554912827	chr8:11643900-11643901	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs804292	chr8:11643915-11643916	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
12	rs8191668	chr8:11643920-11643921	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544359327	chr8:11643971-11643972	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs6997097	chr8:11643972-11643973	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577735719	chr8:11643976-11643977	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181242603	chr8:11644012-11644013	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560399705	chr8:11644018-11644019	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527634800	chr8:11644060-11644061	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570801099	chr8:11644110-11644111	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs145304448	chr8:11644115-11644116	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs8191669	chr8:11644117-11644118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201831780	chr8:11644134-11644135	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71539743	chr8:11644137-11644138	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs71205023	chr8:11644138-11644139	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531379586	chr8:11644159-11644160	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539703714	chr8:11644178-11644179	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185344966	chr8:11644185-11644186	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs189718696	chr8:11644196-11644197	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553253981	chr8:11644258-11644259	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538660806	chr8:11644262-11644263	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148768101	chr8:11644269-11644270	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs8191671	chr8:11644273-11644274	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113456361	chr8:11644286-11644287	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555229873	chr8:11644295-11644296	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs576739654	chr8:11644307-11644308	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537614632	chr8:11644329-11644330	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556310202	chr8:11644351-11644352	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372120337	chr8:11644354-11644355	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs577765613	chr8:11644371-11644372	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545084170	chr8:11644397-11644398	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559931840	chr8:11644398-11644399	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182379003	chr8:11644401-11644402	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs187641012	chr8:11644424-11644425	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs535687631	chr8:11644438-11644439	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs151320756	chr8:11644498-11644499	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs8191672	chr8:11644507-11644508	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs549522120	chr8:11644513-11644514	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs71725096	chr8:11644526-11644527	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544079232	chr8:11644549-11644550	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs565044687	chr8:11644560-11644561	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:151)

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
Gastric cancer	22315472	CNVD
Gastric cancer	17229543	CNVD
Disorders of sex development	22290220	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Honadal dysgenesis	21408189	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 ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4060 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11628400-11647200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:11628400-11653000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:11628400-11656800	Weak transcription	Small Intestine	intestine
4	chr8:11628600-11647200	Weak transcription	Fetal Heart	heart
5	chr8:11628800-11646800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:11629200-11644200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:11629600-11645800	Strong transcription	Fetal Muscle Trunk	muscle
8	chr8:11629800-11644200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:11634400-11645000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:11634600-11644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:11634600-11645200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11635200-11644800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11635400-11645400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:11636000-11645600	Weak transcription	Hela-S3	cervix
15	chr8:11636400-11645600	Strong transcription	Fetal Stomach	stomach
16	chr8:11636600-11644600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr8:11636600-11645000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:11636600-11645800	Strong transcription	Primary B cells from peripheral blood	blood
19	chr8:11636800-11644200	Strong transcription	Dnd41	blood
20	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
21	chr8:11637600-11645600	Strong transcription	Primary B cells from cord blood	blood
22	chr8:11639000-11645400	Weak transcription	HUVEC	blood vessel
23	chr8:11640000-11645000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:11640200-11644400	Strong transcription	Brain Substantia Nigra	brain
25	chr8:11640200-11645600	Strong transcription	Fetal Muscle Leg	muscle
26	chr8:11640400-11644400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr8:11640400-11644400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:11640400-11644600	Strong transcription	Spleen	Spleen
29	chr8:11640400-11644800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:11640400-11644800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:11640400-11645000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:11640400-11645000	Strong transcription	Brain Anterior Caudate	brain
33	chr8:11640400-11645000	Strong transcription	Brain Cingulate Gyrus	brain
34	chr8:11640400-11645600	Strong transcription	HSMMtube	muscle
35	chr8:11640600-11644000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:11640600-11644000	Strong transcription	Adipose Nuclei	Adipose
37	chr8:11640600-11644400	Strong transcription	A549	lung
38	chr8:11640600-11644600	Strong transcription	Placenta	Placenta
39	chr8:11640600-11644800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:11640600-11644800	Strong transcription	Liver	Liver
41	chr8:11640600-11644800	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:11640600-11644800	Strong transcription	HepG2	liver
43	chr8:11640600-11645800	Strong transcription	Fetal Intestine Small	intestine
44	chr8:11640800-11644000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:11640800-11644200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:11640800-11644400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:11640800-11644600	Strong transcription	Lung	lung
48	chr8:11640800-11644600	Strong transcription	Right Ventricle	heart
49	chr8:11640800-11644800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:11640800-11645000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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