Variant report

Variant	esv3324852
Chromosome Location	chr1:120189654-120192402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:682)
CpG islands
(count:549)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:682 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:120190933-120191605	K562	blood:	n/a	n/a
2	ARID3A	chr1:120190642-120191591	HepG2	liver:	n/a	n/a
3	BACH1	chr1:120191126-120191359	K562	blood:	n/a	n/a
4	BACH1	chr1:120190930-120191315	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:120190319-120190706	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr1:120189096-120191318	K562	blood:	n/a	chr1:120190988-120191004 chr1:120190991-120191007 chr1:120190781-120190797 chr1:120190778-120190794
7	BRCA1	chr1:120190721-120191311	HepG2	liver:	n/a	n/a
8	BRCA1	chr1:120190200-120190427	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr1:120190961-120191303	GM12878	blood:	n/a	n/a
10	BRCA1	chr1:120190874-120191639	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr1:120190762-120191572	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr1:120190802-120191331	K562	blood:	n/a	n/a
13	CCNT2	chr1:120190339-120191349	K562	blood:	n/a	chr1:120190448-120190457
14	CCNT2	chr1:120189353-120190110	K562	blood:	n/a	n/a
15	CEBPB	chr1:120190938-120191258	K562	blood:	n/a	n/a
16	CEBPB	chr1:120190405-120191217	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:120190020-120190270	HepG2	liver:	n/a	n/a
18	CEBPB	chr1:120190204-120190518	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr1:120189986-120190209	K562	blood:	n/a	n/a
20	CEBPB	chr1:120189281-120190205	IMR90	lung:	n/a	n/a
21	CEBPD	chr1:120190621-120191099	HepG2	liver:	n/a	n/a
22	CHD1	chr1:120189897-120190657	H1-hESC	embryonic stem cell:	n/a	chr1:120190446-120190456
23	CHD2	chr1:120190628-120191364	HepG2	liver:	n/a	chr1:120190710-120190720 chr1:120191109-120191119 chr1:120191047-120191054
24	CHD2	chr1:120190792-120191336	GM12878	blood:	n/a	chr1:120191109-120191119 chr1:120191047-120191054
25	CHD2	chr1:120190161-120191377	Hela-S3	cervix:	n/a	chr1:120190446-120190456 chr1:120190710-120190720 chr1:120191109-120191119 chr1:120191047-120191054
26	CHD2	chr1:120190089-120191328	H1-hESC	embryonic stem cell:	n/a	chr1:120190446-120190456 chr1:120190710-120190720 chr1:120191109-120191119 chr1:120191047-120191054
27	CHD2	chr1:120190182-120191359	K562	blood:	n/a	chr1:120190446-120190456 chr1:120190710-120190720 chr1:120191109-120191119 chr1:120191047-120191054
28	CREB1	chr1:120190532-120191217	A549	lung:	n/a	n/a
29	CREB1	chr1:120190168-120191226	HepG2	liver:	n/a	n/a
30	CTBP2	chr1:120189858-120191477	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr1:120190320-120190470	NHLF	lung:	n/a	n/a
32	CTCF	chr1:120190800-120190950	HCFaa	heart:	n/a	n/a
33	CTCF	chr1:120190680-120190830	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr1:120190340-120190490	NHEK	skin:	n/a	n/a
35	CTCF	chr1:120190320-120190470	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr1:120190660-120190810	AoAF	blood vessel:	n/a	n/a
37	CTCF	chr1:120190140-120190290	HCM	heart:	n/a	n/a
38	CTCF	chr1:120190700-120190850	GM12865	blood:	n/a	n/a
39	CTCF	chr1:120190271-120190439	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr1:120190260-120190410	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr1:120190680-120190830	HMEC	breast:	n/a	n/a
42	CTCF	chr1:120190680-120190830	AG04449	skin:	n/a	n/a
43	CTCF	chr1:120190780-120190930	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr1:120190300-120190450	HRE	kidney:	n/a	n/a
45	CTCF	chr1:120190181-120190504	K562	blood:	n/a	n/a
46	CTCF	chr1:120190300-120190450	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr1:120190284-120190458	GM19238	blood:	n/a	n/a
48	CTCF	chr1:120190599-120190820	GM19238	blood:	n/a	n/a
49	CTCF	chr1:120190260-120190410	HEK293	kidney:	n/a	n/a
50	CTCF	chr1:120190311-120190400	GM12878	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120190989-120191039	PANC-1	pancreas:	n/a
2	chr1:120191124-120191174	HEK293	kidney:	embryo
3	chr1:120191124-120191174	SAEC	small airway:	n/a
4	chr1:120190859-120190909	LNCaP	prostate:	n/a
5	chr1:120190989-120191039	HUVEC	blood vessel:	n/a
6	chr1:120190989-120191039	NHDF-neo	bronchial:	n/a
7	chr1:120190989-120191039	ovcar-3	ovarian:	n/a
8	chr1:120189930-120189980	GM12878	blood:	n/a
9	chr1:120191124-120191174	NHDF-neo	bronchial:	n/a
10	chr1:120190859-120190909	HNPCEpiC	eye:	n/a
11	chr1:120191124-120191174	AG09319	gingival:	n/a
12	chr1:120190520-120190570	RPTEC	kidney:	n/a
13	chr1:120189930-120189980	AG09309	skin:	n/a
14	chr1:120190520-120190570	NH-A	brain:	n/a
15	chr1:120190520-120190570	LNCaP	prostate:	n/a
16	chr1:120189930-120189980	HCT-116	colon:	n/a
17	chr1:120190550-120190600	RPTEC	kidney:	n/a
18	chr1:120190588-120190638	Hepatocyte	liver:	n/a
19	chr1:120191124-120191174	SKMC	muscle:	n/a
20	chr1:120191124-120191174	HL-60	blood:	n/a
21	chr1:120190378-120190428	HIPEpiC	eye:	n/a
22	chr1:120190989-120191039	NH-A	brain:	n/a
23	chr1:120190451-120190501	MCF10A-Er-Src	breast:	n/a
24	chr1:120190859-120190909	H1-hESC	embryonic stem cell:	embryo
25	chr1:120191124-120191174	GM06990	blood:	n/a
26	chr1:120190550-120190600	A549	lung:	n/a
27	chr1:120190550-120190600	Hela-S3	cervix:	n/a
28	chr1:120191124-120191174	BE2_C	brain:	n/a
29	chr1:120190588-120190638	GM19239	blood:	n/a
30	chr1:120190550-120190600	BE2_C	brain:	n/a
31	chr1:120190550-120190600	MCF-7	breast:	n/a
32	chr1:120191124-120191174	ProgFib	skin:	n/a
33	chr1:120189930-120189980	T-47D	breast:	n/a
34	chr1:120190550-120190600	HNPCEpiC	eye:	n/a
35	chr1:120190859-120190909	HepG2	liver:	n/a
36	chr1:120190520-120190570	NT2-D1	testis:	n/a
37	chr1:120190989-120191039	CMK	blood:	n/a
38	chr1:120190588-120190638	Hela-S3	cervix:	n/a
39	chr1:120190989-120191039	HL-60	blood:	n/a
40	chr1:120191124-120191174	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:120190378-120190428	CMK	blood:	n/a
42	chr1:120190451-120190501	HRPEpiC	eye:	n/a
43	chr1:120190378-120190428	GM12892	blood:	n/a
44	chr1:120190520-120190570	NB4	blood:	n/a
45	chr1:120190588-120190638	T-47D	breast:	n/a
46	chr1:120190989-120191039	Hepatocyte	liver:	n/a
47	chr1:120191124-120191174	HCT-116	colon:	n/a
48	chr1:120190550-120190600	MCF10A-Er-Src	breast:	n/a
49	chr1:120190550-120190600	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:120190588-120190638	PFSK-1	brain:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120190571..120191183-chr2:55646806..55647748,2	Hela-S3	cervix:
2	chr1:120190791..120191303-chr1:235492092..235492913,2	HCT-116	colon:
3	chr1:120161786..120164966-chr1:120184691..120189749,4	K562	blood:
4	chr1:120190883..120191708-chr1:120202673..120203521,2	MCF-7	breast:
5	chr1:120156150..120157072-chr1:120189041..120189869,2	MCF-7	breast:
6	chr1:120171560..120174135-chr1:120188419..120190372,2	K562	blood:
7	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
8	chr1:120187998..120191080-chr1:120201790..120203947,3	K562	blood:
9	chr1:120190729..120191705-chr13:99228174..99228982,2	Hela-S3	cervix:
10	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
11	chr1:120188673..120191126-chr1:120281749..120284526,2	K562	blood:
12	chr1:120166768..120169738-chr1:120190505..120193186,2	MCF-7	breast:
13	chr1:120161786..120164966-chr1:120187188..120189749,3	K562	blood:
14	chr1:120190950..120191717-chr11:94706862..94707619,2	HCT-116	colon:
15	chr1:120188227..120189926-chr1:120206653..120209540,2	MCF-7	breast:
16	chr1:120188763..120191080-chr1:120201790..120203315,2	K562	blood:

No data

Variant related genes	Relation type
ZNF697	TF binding region
ZNF697	CpG island
ENSG00000115355	chromatin interactions
ENSG00000092621	chromatin interactions
ENSG00000152904	chromatin interactions
ENSG00000102572	chromatin interactions
ENSG00000186280	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs347912	chr1:120189655-120189656	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77581672	chr1:120189660-120189661	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1321237	chr1:120189697-120189698	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371368371	chr1:120189750-120189751	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587644090	chr1:120189842-120189843	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587717986	chr1:120189892-120189893	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12409020	chr1:120189911-120189912	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190022282	chr1:120189945-120189946	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116306248	chr1:120189973-120189974	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373484735	chr1:120189998-120189999	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139590936	chr1:120190005-120190006	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116007468	chr1:120190021-120190022	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111599083	chr1:120190036-120190037	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75553948	chr1:120190105-120190106	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587601914	chr1:120190110-120190111	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144203526	chr1:120190117-120190118	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183227438	chr1:120190119-120190120	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587635886	chr1:120190177-120190178	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587717488	chr1:120190200-120190201	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375852146	chr1:120190219-120190220	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs115781871	chr1:120190263-120190264	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587650044	chr1:120190267-120190268	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587682942	chr1:120190293-120190294	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs587767127	chr1:120190373-120190374	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587637120	chr1:120190452-120190453	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs587700520	chr1:120190504-120190505	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs587759951	chr1:120190508-120190509	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587657289	chr1:120190521-120190522	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs587716170	chr1:120190526-120190527	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587595085	chr1:120190538-120190539	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs587648310	chr1:120190540-120190541	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76877852	chr1:120190563-120190564	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587699617	chr1:120190576-120190577	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs587606107	chr1:120190629-120190630	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587655351	chr1:120190631-120190632	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs12731802	chr1:120190694-120190695	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587741611	chr1:120190734-120190735	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs587615287	chr1:120190770-120190771	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs587696836	chr1:120190778-120190779	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs587754241	chr1:120190796-120190797	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs587734493	chr1:120190825-120190826	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs370060162	chr1:120190826-120190827	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs151025189	chr1:120190843-120190844	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs113828418	chr1:120190845-120190846	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs587651998	chr1:120190855-120190856	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs141118537	chr1:120190859-120190860	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs587688386	chr1:120190888-120190889	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs587742250	chr1:120190898-120190899	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs587622098	chr1:120191017-120191018	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs12129705	chr1:120191044-120191045	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Cancer	21272361	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120183400-120190200	Weak transcription	Small Intestine	intestine
2	chr1:120188000-120189800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:120188200-120189800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:120188200-120190200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:120188400-120189800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:120188400-120189800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:120188400-120189800	Enhancers	Hela-S3	cervix
8	chr1:120188400-120189800	Enhancers	HSMM	muscle
9	chr1:120188400-120190200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:120188600-120189800	Enhancers	Liver	Liver
11	chr1:120188600-120189800	Enhancers	Gastric	stomach
12	chr1:120188600-120191600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:120188600-120191600	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:120188800-120189800	Enhancers	Spleen	Spleen
15	chr1:120188800-120189800	Enhancers	A549	lung
16	chr1:120188800-120190000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:120188800-120190200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:120188800-120190400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:120188800-120191400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:120188800-120191600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:120188800-120191600	Active TSS	HSMMtube	muscle
22	chr1:120189000-120189800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr1:120189000-120189800	Enhancers	Primary hematopoietic stem cells	blood
24	chr1:120189000-120189800	Active TSS	Brain Hippocampus Middle	brain
25	chr1:120189000-120189800	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr1:120189000-120189800	Enhancers	Colon Smooth Muscle	Colon
27	chr1:120189000-120190200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr1:120189000-120190400	Flanking Active TSS	HMEC	breast
29	chr1:120189200-120189800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:120189200-120189800	Enhancers	Brain Angular Gyrus	brain
31	chr1:120189200-120189800	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:120189200-120189800	Active TSS	Fetal Muscle Trunk	muscle
33	chr1:120189200-120189800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:120189200-120189800	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr1:120189200-120190200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:120189200-120190200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr1:120189200-120190400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:120189200-120191600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:120189200-120191800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:120189200-120191800	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:120189400-120189800	Active TSS	Brain Germinal Matrix	brain
42	chr1:120189400-120189800	Enhancers	Colonic Mucosa	Colon
43	chr1:120189400-120189800	Enhancers	Esophagus	oesophagus
44	chr1:120189400-120189800	Active TSS	Stomach Smooth Muscle	stomach
45	chr1:120189400-120189800	Active TSS	GM12878-XiMat	blood
46	chr1:120189400-120190200	Flanking Active TSS	Lung	lung
47	chr1:120189400-120190200	Flanking Active TSS	Pancreas	Pancrea
48	chr1:120189400-120190400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:120189400-120191400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:120189400-120191400	Active TSS	NH-A	brain

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