Variant report

Variant	esv14202
Chromosome Location	chr1:180198652-180200893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:366)
CpG islands
(count:610)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:180200028-180200748	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr1:180198468-180199024	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr1:180199260-180199676	K562	blood:	n/a	n/a
4	CBX3	chr1:180198634-180199103	K562	blood:	n/a	n/a
5	CCNT2	chr1:180200084-180200208	K562	blood:	n/a	n/a
6	CCNT2	chr1:180198445-180199121	K562	blood:	n/a	n/a
7	CEBPB	chr1:180200068-180200296	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr1:180200210-180200538	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr1:180199668-180199760	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr1:180199170-180199684	H1-hESC	embryonic stem cell:	n/a	chr1:180199487-180199497
11	CHD2	chr1:180200190-180200440	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr1:180199394-180199563	K562	blood:	n/a	chr1:180199487-180199497
13	CHD2	chr1:180198887-180198973	K562	blood:	n/a	n/a
14	CHD2	chr1:180199001-180200978	Hela-S3	cervix:	n/a	chr1:180199487-180199497 chr1:180199805-180199815
15	CREB1	chr1:180199137-180199448	A549	lung:	n/a	n/a
16	CREB1	chr1:180198879-180199615	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr1:180198531-180199116	A549	lung:	n/a	n/a
18	CREB1	chr1:180200604-180200867	A549	lung:	n/a	n/a
19	CREB1	chr1:180199685-180199959	A549	lung:	n/a	n/a
20	CREB1	chr1:180199143-180199557	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr1:180199283-180201455	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr1:180197846-180199045	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:180200850-180201026	HepG2	liver:	n/a	n/a
24	CTCF	chr1:180200800-180200950	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:180200880-180201030	GM06990	blood:	n/a	n/a
26	CTCF	chr1:180200840-180200990	Caco-2	colon:	n/a	n/a
27	CTCF	chr1:180198880-180199030	GM12864	blood:	n/a	n/a
28	CTCF	chr1:180200839-180201026	GM19238	blood:	n/a	n/a
29	CTCF	chr1:180200780-180200930	BJ	skin:	n/a	n/a
30	CTCF	chr1:180200780-180201004	A549	lung:	n/a	n/a
31	CTCF	chr1:180200840-180200990	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr1:180198900-180199050	GM12878	blood:	n/a	n/a
33	CTCF	chr1:180200886-180200980	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr1:180200846-180201046	GM12878	blood:	n/a	n/a
35	CTCF	chr1:180200794-180201054	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:180200794-180201036	GM12891	blood:	n/a	n/a
37	CTCF	chr1:180200818-180201040	GM12892	blood:	n/a	n/a
38	CTCF	chr1:180200739-180201064	T-47D	breast:	n/a	n/a
39	CTCF	chr1:180200840-180200990	AG04449	skin:	n/a	n/a
40	CTCF	chr1:180200821-180201028	NHEK	skin:	n/a	n/a
41	CTCF	chr1:180200880-180201030	HAc	cerebellar:	n/a	n/a
42	CTCF	chr1:180200860-180201010	GM12874	blood:	n/a	n/a
43	CTCF	chr1:180198920-180199070	GM12871	blood:	n/a	n/a
44	CTCF	chr1:180200815-180201055	A549	lung:	n/a	n/a
45	CTCF	chr1:180200860-180201010	GM12869	blood:	n/a	n/a
46	CTCF	chr1:180200860-180201010	HRE	kidney:	n/a	n/a
47	CTCF	chr1:180200800-180200950	GM12873	blood:	n/a	n/a
48	CTCF	chr1:180200800-180200950	GM12874	blood:	n/a	n/a
49	CTCF	chr1:180200839-180200989	GM12878	blood:	n/a	n/a
50	CTCF	chr1:180200820-180200970	GM12867	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180200687-180200737	SKMC	muscle:	n/a
2	chr1:180200750-180200800	K562	blood:	n/a
3	chr1:180199001-180199051	Jurkat	blood:	n/a
4	chr1:180199560-180199610	HUVEC	blood vessel:	n/a
5	chr1:180200750-180200800	GM12891	blood:	n/a
6	chr1:180200750-180200800	Hela-S3	cervix:	n/a
7	chr1:180199443-180199493	BE2_C	brain:	n/a
8	chr1:180199269-180199319	HNPCEpiC	eye:	n/a
9	chr1:180199980-180200030	SKMC	muscle:	n/a
10	chr1:180199374-180199424	IMR90	lung:	fetal
11	chr1:180199269-180199319	PrEC	prostate:	n/a
12	chr1:180199269-180199319	HRCEpiC	kidney:	n/a
13	chr1:180200687-180200737	BE2_C	brain:	n/a
14	chr1:180200104-180200154	AG09309	skin:	n/a
15	chr1:180200104-180200154	HRPEpiC	eye:	n/a
16	chr1:180199374-180199424	ECC-1	luminal epithelium:	n/a
17	chr1:180199001-180199051	HRCEpiC	kidney:	n/a
18	chr1:180200104-180200154	HCF	heart:	n/a
19	chr1:180199274-180199324	A549	lung:	n/a
20	chr1:180200104-180200154	Jurkat	blood:	n/a
21	chr1:180200104-180200154	SK-N-SH_RA	brain:	n/a
22	chr1:180199980-180200030	PrEC	prostate:	n/a
23	chr1:180199443-180199493	SK-N-MC	brain:	n/a
24	chr1:180199374-180199424	CMK	blood:	n/a
25	chr1:180199274-180199324	IMR90	lung:	fetal
26	chr1:180199560-180199610	AG04450	lung:	fetal
27	chr1:180200750-180200800	SK-N-SH_RA	brain:	n/a
28	chr1:180199443-180199493	T-47D	breast:	n/a
29	chr1:180199269-180199319	PANC-1	pancreas:	n/a
30	chr1:180200104-180200154	PANC-1	pancreas:	n/a
31	chr1:180199560-180199610	SK-N-SH	brain:	n/a
32	chr1:180199443-180199493	A549	lung:	n/a
33	chr1:180199269-180199319	LNCaP	prostate:	n/a
34	chr1:180199274-180199324	BE2_C	brain:	n/a
35	chr1:180200104-180200154	SAEC	small airway:	n/a
36	chr1:180200687-180200737	A549	lung:	n/a
37	chr1:180199443-180199493	AoSMC	blood vessel:	n/a
38	chr1:180199980-180200030	MCF10A-Er-Src	breast:	n/a
39	chr1:180199443-180199493	MCF-7	breast:	n/a
40	chr1:180200104-180200154	SKMC	muscle:	n/a
41	chr1:180200750-180200800	HEK293	kidney:	embryo
42	chr1:180199374-180199424	NHDF-neo	bronchial:	n/a
43	chr1:180199443-180199493	NT2-D1	testis:	n/a
44	chr1:180199001-180199051	SK-N-MC	brain:	n/a
45	chr1:180199980-180200030	BE2_C	brain:	n/a
46	chr1:180199560-180199610	T-47D	breast:	n/a
47	chr1:180199560-180199610	AG09319	gingival:	n/a
48	chr1:180200104-180200154	ovcar-3	ovarian:	n/a
49	chr1:180200687-180200737	GM06990	blood:	n/a
50	chr1:180200104-180200154	AG10803	skin:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:180197504..180199167-chr1:180224925..180226535,2	MCF-7	breast:
2	chr1:180199784..180201302-chr1:180212906..180214774,2	MCF-7	breast:
3	chr1:180157764..180160729-chr1:180196773..180199044,2	MCF-7	breast:
4	chr1:180197757..180200322-chr1:180217302..180220148,2	K562	blood:
5	chr1:180049598..180051873-chr1:180198863..180200788,2	MCF-7	breast:
6	chr1:180197528..180200245-chr1:180468948..180472883,3	MCF-7	breast:
7	chr1:180199812..180202263-chr1:180239258..180241865,2	MCF-7	breast:
8	chr1:180157990..180162959-chr1:180199986..180202950,5	MCF-7	breast:
9	chr1:180196398..180198939-chr20:52539225..52540761,2	MCF-7	breast:
10	chr1:179832613..179834557-chr1:180196646..180198975,2	MCF-7	breast:
11	chr1:180179631..180182619-chr1:180197309..180199073,2	K562	blood:
12	chr1:180179034..180181372-chr1:180199853..180201583,2	MCF-7	breast:
13	chr1:180157396..180157988-chr1:180200314..180201082,2	MCF-7	breast:
14	chr1:180123935..180126561-chr1:180199070..180201304,3	MCF-7	breast:
15	chr1:180200237..180200800-chr1:180221493..180222077,2	MCF-7	breast:
16	chr1:180200127..180202190-chr1:180221742..180224179,2	MCF-7	breast:
17	chr1:180183763..180186747-chr1:180199591..180203355,3	MCF-7	breast:

No data

Variant related genes	Relation type
LHX4	TF binding region
LHX4	CpG island
ENSG00000121454	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000116260	chromatin interactions
ENSG00000135847	chromatin interactions
ENSG00000258664	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs355613	chr1:180198699-180198700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371730893	chr1:180198701-180198702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs11583176	chr1:180198727-180198728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556584244	chr1:180198758-180198759	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs543590208	chr1:180198788-180198789	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs578155953	chr1:180198881-180198882	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs576721816	chr1:180198909-180198910	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs114309408	chr1:180198927-180198928	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs559231457	chr1:180198981-180198982	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs572655235	chr1:180199056-180199057	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs370353766	chr1:180199100-180199101	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs369743356	chr1:180199245-180199246	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs541561148	chr1:180199248-180199249	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs373615884	chr1:180199309-180199310	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs561399993	chr1:180199375-180199376	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs545245517	chr1:180199384-180199385	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs376318220	chr1:180199385-180199386	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs530051580	chr1:180199399-180199400	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs543844879	chr1:180199418-180199419	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs563523093	chr1:180199440-180199441	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs532307461	chr1:180199444-180199445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs376657735	chr1:180199493-180199494	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552031299	chr1:180199494-180199495	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs565557892	chr1:180199531-180199532	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs528235278	chr1:180199532-180199533	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs547988090	chr1:180199544-180199545	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs355625	chr1:180199545-180199546	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536746182	chr1:180199586-180199587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs556960634	chr1:180199593-180199594	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs373681851	chr1:180199639-180199640	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs201496412	chr1:180199658-180199659	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs370108347	chr1:180199687-180199688	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs146664099	chr1:180199701-180199702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs138103487	chr1:180199710-180199711	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs75857235	chr1:180199727-180199728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs200544905	chr1:180199730-180199731	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs200078561	chr1:180199753-180199754	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs367782133	chr1:180199761-180199762	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs554859643	chr1:180199764-180199765	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs369479024	chr1:180199767-180199768	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs376522560	chr1:180199786-180199787	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs376774306	chr1:180199789-180199790	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs369273178	chr1:180199809-180199810	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs185090999	chr1:180199835-180199836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs532343503	chr1:180199928-180199929	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs545707164	chr1:180199988-180199989	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs377427470	chr1:180200036-180200037	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs559181026	chr1:180200038-180200039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs75823355	chr1:180200048-180200049	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs79779421	chr1:180200063-180200064	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD

Chromatin state (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180197400-180201000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:180197600-180201000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:180197800-180198800	Bivalent Enhancer	Fetal Brain Male	brain
4	chr1:180197800-180201000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:180197800-180201000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:180197800-180201200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:180198000-180198800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
9	chr1:180198000-180198800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
10	chr1:180198000-180199000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
11	chr1:180198000-180199000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr1:180198000-180199000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr1:180198000-180200600	Bivalent/Poised TSS	NHEK	skin
14	chr1:180198000-180201000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
20	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
22	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
23	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr1:180198200-180198800	Flanking Active TSS	Gastric	stomach
26	chr1:180198200-180198800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
27	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
28	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
36	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
37	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
39	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
40	chr1:180198200-180199000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
41	chr1:180198200-180199200	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr1:180198200-180199600	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr1:180198200-180199600	Bivalent/Poised TSS	Osteobl	bone
44	chr1:180198200-180200000	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr1:180198200-180201000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr1:180198400-180198800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:180198400-180198800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:180198400-180198800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:180198400-180198800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:180198400-180198800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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