Variant report

Variant	nsv1030587
Chromosome Location	chr5:180119301-180229093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1327)
CpG islands
(count:1038)
Chromatin interactive
region (count:75)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1327 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:180212570-180213141	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr5:180144959-180145359	GM12878	blood:	n/a	n/a
3	ATF2	chr5:180212679-180213244	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr5:180145061-180145379	GM12878	blood:	n/a	chr5:180145207-180145218
5	BATF	chr5:180145040-180145312	GM12878	blood:	n/a	chr5:180145207-180145218
6	BATF	chr5:180169789-180169977	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:180145000-180145348	GM12878	blood:	n/a	chr5:180145235-180145244
8	BCL11A	chr5:180145100-180145299	GM12878	blood:	n/a	chr5:180145235-180145244
9	BCL3	chr5:180229004-180229979	A549	lung:	n/a	chr5:180229768-180229781
10	CBX3	chr5:180127492-180127736	K562	blood:	n/a	n/a
11	CBX3	chr5:180208965-180209392	K562	blood:	n/a	n/a
12	CBX3	chr5:180198844-180199194	K562	blood:	n/a	n/a
13	CBX3	chr5:180208858-180209504	K562	blood:	n/a	n/a
14	CBX3	chr5:180215613-180215981	K562	blood:	n/a	n/a
15	CBX3	chr5:180198766-180199290	K562	blood:	n/a	n/a
16	CEBPB	chr5:180229018-180229879	HCT-116	colon:	n/a	chr5:180229202-180229214
17	CEBPB	chr5:180229075-180229803	A549	lung:	n/a	chr5:180229202-180229214
18	CEBPB	chr5:180208882-180209430	K562	blood:	n/a	n/a
19	CEBPB	chr5:180131341-180131657	K562	blood:	n/a	n/a
20	CEBPB	chr5:180209005-180209250	K562	blood:	n/a	n/a
21	CEBPD	chr5:180208780-180209396	K562	blood:	n/a	n/a
22	CEBPD	chr5:180131384-180131803	K562	blood:	n/a	n/a
23	CEBPD	chr5:180208777-180209303	K562	blood:	n/a	n/a
24	CREB1	chr5:180144836-180145451	GM12878	blood:	n/a	n/a
25	CREB1	chr5:180144917-180145413	GM12878	blood:	n/a	n/a
26	CTCF	chr5:180211640-180211790	GM12872	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
27	CTCF	chr5:180226300-180226450	GM12878	blood:	n/a	n/a
28	CTCF	chr5:180227440-180227590	HCFaa	heart:	n/a	n/a
29	CTCF	chr5:180217020-180217318	GM12892	blood:	n/a	chr5:180217158-180217179 chr5:180217156-180217174 chr5:180217245-180217258 chr5:180217159-180217172 chr5:180217242-180217260 chr5:180217157-180217173
30	CTCF	chr5:180180800-180180950	GM12873	blood:	n/a	n/a
31	CTCF	chr5:180226300-180226450	GM12864	blood:	n/a	n/a
32	CTCF	chr5:180217060-180217210	BE2_C	brain:	n/a	chr5:180217158-180217179 chr5:180217156-180217174 chr5:180217159-180217172 chr5:180217157-180217173
33	CTCF	chr5:180227360-180227510	AG04450	lung:	n/a	n/a
34	CTCF	chr5:180145773-180146050	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr5:180211580-180211730	BE2_C	brain:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
36	CTCF	chr5:180226320-180226470	HMF	breast:	n/a	n/a
37	CTCF	chr5:180226300-180226450	SAEC	small airway:	n/a	n/a
38	CTCF	chr5:180226300-180226450	HepG2	liver:	n/a	n/a
39	CTCF	chr5:180145820-180145970	BJ	skin:	n/a	n/a
40	CTCF	chr5:180226298-180226468	GM10266	blood:	n/a	n/a
41	CTCF	chr5:180227660-180227810	GM12874	blood:	n/a	n/a
42	CTCF	chr5:180217019-180217325	MCF-7	breast:	n/a	chr5:180217158-180217179 chr5:180217156-180217174 chr5:180217245-180217258 chr5:180217159-180217172 chr5:180217242-180217260 chr5:180217157-180217173
43	CTCF	chr5:180145800-180145950	HAc	cerebellar:	n/a	n/a
44	CTCF	chr5:180214815-180214885	Medullo	brain:	n/a	n/a
45	CTCF	chr5:180145880-180146030	NHEK	skin:	n/a	n/a
46	CTCF	chr5:180211576-180211789	GM20000	blood:	n/a	chr5:180211685-180211706 chr5:180211683-180211701
47	CTCF	chr5:180226320-180226470	HMEC	breast:	n/a	n/a
48	CTCF	chr5:180159500-180159512	HepG2	liver:	n/a	n/a
49	CTCF	chr5:180226360-180226510	GM12871	blood:	n/a	n/a
50	CTCF	chr5:180211600-180211750	WERI-Rb-1	eye:	n/a	chr5:180211685-180211706 chr5:180211683-180211701

(count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:180167724-180167774	HRPEpiC	eye:	n/a
2	chr5:180167724-180167774	HRPEpiC	eye:	n/a
3	chr5:180167724-180167774	SK-N-SH	brain:	n/a
4	chr5:180213189-180213239	H1-hESC	embryonic stem cell:	embryo
5	chr5:180220005-180220055	PFSK-1	brain:	n/a
6	chr5:180227299-180227349	SK-N-SH_RA	brain:	n/a
7	chr5:180216985-180217035	HRCEpiC	kidney:	n/a
8	chr5:180166694-180166744	AG04449	skin:	fetal
9	chr5:180166694-180166744	HRPEpiC	eye:	n/a
10	chr5:180166492-180166542	PFSK-1	brain:	n/a
11	chr5:180216985-180217035	MCF-7	breast:	n/a
12	chr5:180219008-180219058	HRE	kidney:	n/a
13	chr5:180218509-180218559	HMEC	breast:	n/a
14	chr5:180219707-180219757	NHDF-neo	bronchial:	n/a
15	chr5:180167724-180167774	U87	brain:	n/a
16	chr5:180219707-180219757	H1-hESC	embryonic stem cell:	embryo
17	chr5:180216985-180217035	ECC-1	luminal epithelium:	n/a
18	chr5:180227299-180227349	H1-hESC	embryonic stem cell:	embryo
19	chr5:180219008-180219058	PANC-1	pancreas:	n/a
20	chr5:180217700-180217750	BJ	skin:	n/a
21	chr5:180167965-180168015	PFSK-1	brain:	n/a
22	chr5:180167132-180167182	AG10803	skin:	n/a
23	chr5:180218509-180218559	PFSK-1	brain:	n/a
24	chr5:180227299-180227349	HIPEpiC	eye:	n/a
25	chr5:180213189-180213239	HEEpiC	esophagus:	n/a
26	chr5:180217700-180217750	HIPEpiC	eye:	n/a
27	chr5:180229067-180229117	AG09309	skin:	n/a
28	chr5:180213189-180213239	PFSK-1	brain:	n/a
29	chr5:180217700-180217750	T-47D	breast:	n/a
30	chr5:180213189-180213239	PANC-1	pancreas:	n/a
31	chr5:180219707-180219757	SAEC	small airway:	n/a
32	chr5:180217700-180217750	GM12891	blood:	n/a
33	chr5:180166694-180166744	NT2-D1	testis:	n/a
34	chr5:180166694-180166744	A549	lung:	n/a
35	chr5:180167965-180168015	NHBE	bronchial:	n/a
36	chr5:180220005-180220055	HCT-116	colon:	n/a
37	chr5:180219008-180219058	HCF	heart:	n/a
38	chr5:180219882-180219932	NB4	blood:	n/a
39	chr5:180219008-180219058	NT2-D1	testis:	n/a
40	chr5:180167566-180167616	GM19239	blood:	n/a
41	chr5:180216985-180217035	GM12892	blood:	n/a
42	chr5:180216985-180217035	K562	blood:	n/a
43	chr5:180219008-180219058	RPTEC	kidney:	n/a
44	chr5:180167566-180167616	AG10803	skin:	n/a
45	chr5:180216985-180217035	HCT-116	colon:	n/a
46	chr5:180217700-180217750	HNPCEpiC	eye:	n/a
47	chr5:180167566-180167616	NHBE	bronchial:	n/a
48	chr5:180167965-180168015	HEEpiC	esophagus:	n/a
49	chr5:180219882-180219932	ProgFib	skin:	n/a
50	chr5:180167132-180167182	LNCaP	prostate:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:
2	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
3	chr5:180211185..180212156-chr5:180225940..180226892,9	MCF-7	breast:
4	chr5:180171538..180174150-chr5:180179388..180180987,2	K562	blood:
5	chr5:180168086..180169925-chr5:180190599..180192805,2	K562	blood:
6	chr5:180212092..180214294-chr5:180453988..180456472,2	K562	blood:
7	chr5:180225360..180227126-chr5:180650048..180652695,2	MCF-7	breast:
8	chr5:180223525..180226490-chr5:180609242..180611026,2	K562	blood:
9	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
10	chr5:180227369..180230069-chr5:180671459..180674771,3	MCF-7	breast:
11	chr5:180228489..180231362-chr5:180631934..180633728,2	MCF-7	breast:
12	chr5:180219008..180221127-chr5:180221660..180224233,2	MCF-7	breast:
13	chr5:180217957..180220948-chr5:180429295..180431970,2	K562	blood:
14	chr5:179718120..179720283-chr5:180227933..180230146,2	MCF-7	breast:
15	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
16	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
17	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
18	chr5:180170663..180173512-chr5:180175093..180176860,2	K562	blood:
19	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
20	chr5:180216578..180217657-chr5:180225674..180226614,3	MCF-7	breast:
21	chr5:180147687..180149481-chr5:180151717..180153867,2	K562	blood:
22	chr5:180202113..180204208-chr5:180208493..180210882,2	K562	blood:
23	chr5:180207628..180210924-chr5:180228309..180230947,5	MCF-7	breast:
24	chr5:180217067..180219759-chr5:180269419..180271439,2	K562	blood:
25	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
26	chr5:180097643..180098351-chr5:180145367..180146387,3	MCF-7	breast:
27	chr5:180210073..180212750-chr5:180649135..180651698,2	MCF-7	breast:
28	chr5:180136617..180138276-chr5:180153652..180155749,2	K562	blood:
29	chr5:180221672..180224385-chr5:180256701..180259508,2	K562	blood:
30	chr5:141302965..141303777-chr5:180228742..180229546,2	Hela-S3	cervix:
31	chr5:180209019..180210957-chr5:180453882..180456380,2	K562	blood:
32	chr5:180153993..180156519-chr5:180159947..180161759,2	K562	blood:
33	chr5:180222666..180225025-chr5:180609526..180611478,2	K562	blood:
34	chr5:180211375..180212214-chr5:180226180..180226854,2	MCF-7	breast:
35	chr5:180143140..180144948-chr5:180229622..180231793,2	K562	blood:
36	chr5:180217057..180217623-chr5:180228458..180229188,2	MCF-7	breast:
37	chr5:180211640..180213961-chr5:180214094..180219248,5	K562	blood:
38	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
39	chr5:180202321..180205166-chr5:180643152..180645917,2	K562	blood:
40	chr5:180226982..180228709-chr5:180280762..180282451,2	K562	blood:
41	chr5:180227912..180229802-chr5:180527459..180529455,2	K562	blood:
42	chr5:180146148..180147851-chr5:180235768..180238086,2	K562	blood:
43	chr5:180168390..180170515-chr5:180204872..180207367,2	K562	blood:
44	chr5:180228575..180230835-chr5:180669512..180671482,2	K562	blood:
45	chr5:180207548..180210211-chr5:180589188..180591545,3	K562	blood:
46	chr5:180211281..180211887-chr5:180586366..180586939,2	MCF-7	breast:
47	chr5:180158275..180159905-chr5:180163258..180165205,2	K562	blood:
48	chr5:40835246..40835914-chr5:180228933..180229470,2	Hela-S3	cervix:
49	chr5:180208714..180211702-chr5:180212096..180213803,2	K562	blood:
50	chr5:180037911..180038640-chr5:180145288..180145999,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTNL8-8	chr5:180193918-180195284	ucscGeneNc_uc003mmk_2
2	lnc-BTNL8-8	chr5:180192279-180192466	ucscGeneNc_uc003mmk_2
3	lnc-OR2Y1-2	chr5:180189565-180191201	ucscGeneNc_uc003mmj_1
4	lnc-BTNL8-8	chr5:180190563-180190835	ucscGeneNc_uc003mmk_2
5	lnc-ZFP62-3	chr5:180222406-180222875	NONHSAT105809
6	lnc-OR2Y1-1	chr5:180155280-180155484	expReg_chr5_11028_-
7	lnc-ZFP62-3	chr5:180222430-180222875	NONHSAT105810

No data

Variant related genes	Relation type
OR2AI1P	TF binding region
RNU1-17P	TF binding region
ENSG00000260841	TF binding region
OR2Y1	TF binding region
OR2AI1P	CpG island
RNU1-17P	CpG island
ENSG00000260841	CpG island
OR2Y1	CpG island
ENSG00000260841	chromatin interactions
ENSG00000146054	chromatin interactions
ENSG00000081791	chromatin interactions
ENSG00000248514	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000268397	chromatin interactions
ENSG00000245060	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000233937	chromatin interactions
ENSG00000199892	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000050748	chromatin interactions
ENSG00000131446	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000214295	chromatin interactions
ENSG00000196670	chromatin interactions
ENSG00000264732	chromatin interactions

Extended variants
information (count: 2913 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:2913 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115475386	chr5:180119325-180119326	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577134864	chr5:180119330-180119331	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150314624	chr5:180119358-180119359	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116789585	chr5:180119375-180119376	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114646786	chr5:180119380-180119381	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372318501	chr5:180119383-180119384	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78274747	chr5:180119435-180119436	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369354564	chr5:180119464-180119465	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149445622	chr5:180119489-180119490	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187424765	chr5:180119499-180119500	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115768773	chr5:180119507-180119508	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533234947	chr5:180119534-180119535	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114186414	chr5:180119584-180119585	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3912377	chr5:180119608-180119609	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs33971128	chr5:180119616-180119617	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10069994	chr5:180119677-180119678	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535812202	chr5:180119682-180119683	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549611586	chr5:180119702-180119703	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567965618	chr5:180119703-180119704	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533754464	chr5:180119802-180119803	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10055894	chr5:180119824-180119825	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560878985	chr5:180119894-180119895	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577048502	chr5:180119901-180119902	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193260221	chr5:180119905-180119906	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10055973	chr5:180119918-180119919	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576179827	chr5:180119920-180119921	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60350100	chr5:180119948-180119949	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11738161	chr5:180120010-180120011	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13188129	chr5:180120044-180120045	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541059085	chr5:180120045-180120046	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs10071630	chr5:180120068-180120069	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs57118750	chr5:180120085-180120086	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549853785	chr5:180120112-180120113	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs563739314	chr5:180120122-180120123	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs529441023	chr5:180120140-180120141	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs11738216	chr5:180120149-180120150	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184869333	chr5:180120174-180120175	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs78056572	chr5:180120175-180120176	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs114918368	chr5:180120186-180120187	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs7731780	chr5:180120192-180120193	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539585621	chr5:180120197-180120198	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs189249588	chr5:180120200-180120201	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs7341096	chr5:180120226-180120227	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569756112	chr5:180120246-180120247	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs535601071	chr5:180120331-180120332	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs375448730	chr5:180120369-180120370	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs561183577	chr5:180120384-180120385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs555254054	chr5:180120385-180120386	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs572330670	chr5:180120399-180120400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs540920263	chr5:180120400-180120401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	17440070	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180112200-180119400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:180116600-180120000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:180116600-180130800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:180117000-180120000	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr5:180117000-180120600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr5:180117000-180120800	Enhancers	Fetal Thymus	thymus
7	chr5:180117200-180120400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:180117200-180120400	Enhancers	Thymus	Thymus
9	chr5:180117200-180121400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:180117400-180120600	Enhancers	Primary T cells from cord blood	blood
11	chr5:180117400-180120600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr5:180119000-180119400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:180119000-180120000	Weak transcription	Dnd41	blood
14	chr5:180119200-180120200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:180119400-180119800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:180120000-180120200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:180120000-180120200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:180120000-180120200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180120000-180120200	Enhancers	Pancreas	Pancrea
20	chr5:180120000-180120200	Enhancers	Dnd41	blood
21	chr5:180120000-180120600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr5:180125800-180126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:180126200-180127000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:180126200-180127200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:180127200-180134800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:180130800-180131600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:180131000-180131600	Enhancers	K562	blood
28	chr5:180131200-180131400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:180131200-180131600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:180131200-180131600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:180131400-180131800	Enhancers	A549	lung
32	chr5:180131600-180134800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:180131600-180134800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:180131600-180135000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:180134800-180135200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:180134800-180135200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:180134800-180137200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:180134800-180138000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:180135000-180135200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:180135200-180135600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:180135200-180137200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr5:180135200-180137200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:180135200-180137400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:180135600-180137400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:180136000-180136200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:180136200-180138200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:180136400-180137400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:180137200-180137400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr5:180137200-180138000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr5:180137200-180138600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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