Variant report

Variant	nsv555255
Chromosome Location	chr11:67177797-67191449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:624)
CpG islands
(count:1404)
Chromatin interactive
region (count:37)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr11:67188448-67188718	K562	blood:	n/a	n/a
2	BACH1	chr11:67187790-67187821	K562	blood:	n/a	n/a
3	BACH1	chr11:67188387-67188748	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:67190239-67190362	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr11:67187129-67187391	GM12878	blood:	n/a	n/a
6	BCLAF1	chr11:67187937-67188334	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:67188009-67188193	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:67188258-67188614	HepG2	liver:	n/a	chr11:67188345-67188361
9	BHLHE40	chr11:67179207-67179387	K562	blood:	n/a	n/a
10	BHLHE40	chr11:67188399-67188616	K562	blood:	n/a	n/a
11	BHLHE40	chr11:67188429-67188611	GM12878	blood:	n/a	n/a
12	BHLHE40	chr11:67188067-67188131	K562	blood:	n/a	n/a
13	BRCA1	chr11:67188731-67188974	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr11:67188439-67188784	K562	blood:	n/a	n/a
15	CBX3	chr11:67189986-67190345	K562	blood:	n/a	n/a
16	CCNT2	chr11:67188066-67188877	K562	blood:	n/a	n/a
17	CEBPB	chr11:67178243-67178332	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:67184548-67184586	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:67178594-67178674	H1-hESC	embryonic stem cell:	n/a	chr11:67178621-67178638
20	CEBPB	chr11:67178565-67178637	K562	blood:	n/a	n/a
21	CEBPB	chr11:67178276-67178339	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:67189709-67189867	K562	blood:	n/a	n/a
23	CEBPB	chr11:67184462-67184707	HepG2	liver:	n/a	n/a
24	CEBPD	chr11:67188359-67188608	HepG2	liver:	n/a	n/a
25	CHD1	chr11:67188358-67188557	GM12878	blood:	n/a	chr11:67188391-67188401
26	CHD2	chr11:67177662-67177862	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr11:67177761-67177871	HepG2	liver:	n/a	n/a
28	CHD2	chr11:67188578-67188798	GM12878	blood:	n/a	n/a
29	CHD2	chr11:67188532-67188534	K562	blood:	n/a	n/a
30	CHD2	chr11:67188743-67188905	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:67188418-67189043	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr11:67188359-67188879	K562	blood:	n/a	n/a
33	CREB1	chr11:67188052-67189099	A549	lung:	n/a	n/a
34	CREB1	chr11:67188260-67188936	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:67177740-67177891	GM19239	blood:	n/a	chr11:67177779-67177787
36	CTCF	chr11:67177700-67177850	GM06990	blood:	n/a	chr11:67177779-67177787
37	CTCF	chr11:67177700-67177850	MCF-7	breast:	n/a	chr11:67177779-67177787
38	CTCF	chr11:67188041-67188245	GM19239	blood:	n/a	n/a
39	CTCF	chr11:67189062-67189128	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:67188531-67188823	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr11:67188055-67188239	K562	blood:	n/a	n/a
42	CTCF	chr11:67177724-67177836	MCF-7	breast:	n/a	chr11:67177779-67177787
43	CTCF	chr11:67179862-67179934	K562	blood:	n/a	n/a
44	CTCF	chr11:67177700-67177850	GM12874	blood:	n/a	chr11:67177779-67177787
45	CTCF	chr11:67189050-67189185	NHEK	skin:	n/a	n/a
46	CTCF	chr11:67188143-67188182	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:67188102-67188157	GM12878	blood:	n/a	n/a
48	CTCF	chr11:67189063-67189155	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:67179897-67179971	GM19239	blood:	n/a	n/a
50	CTCF	chr11:67179832-67179985	GM12892	blood:	n/a	n/a

(count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67188521-67188571	MCF10A-Er-Src	breast:	n/a
2	chr11:67188521-67188571	MCF10A-Er-Src	breast:	n/a
3	chr11:67188696-67188746	AG04450	lung:	fetal
4	chr11:67183616-67183666	Hela-S3	cervix:	n/a
5	chr11:67189121-67189171	GM12878	blood:	n/a
6	chr11:67188491-67188541	AG04450	lung:	fetal
7	chr11:67191275-67191325	AG04450	lung:	fetal
8	chr11:67179310-67179360	GM06990	blood:	n/a
9	chr11:67183148-67183198	MCF-7	breast:	n/a
10	chr11:67183148-67183198	HCF	heart:	n/a
11	chr11:67183078-67183128	ECC-1	luminal epithelium:	n/a
12	chr11:67188871-67188921	SAEC	small airway:	n/a
13	chr11:67188871-67188921	HEK293	kidney:	embryo
14	chr11:67183080-67183130	HCT-116	colon:	n/a
15	chr11:67179310-67179360	T-47D	breast:	n/a
16	chr11:67186575-67186625	GM12892	blood:	n/a
17	chr11:67191412-67191462	BE2_C	brain:	n/a
18	chr11:67183616-67183666	GM12892	blood:	n/a
19	chr11:67191412-67191462	HRE	kidney:	n/a
20	chr11:67191412-67191462	HRCEpiC	kidney:	n/a
21	chr11:67183078-67183128	ProgFib	skin:	n/a
22	chr11:67188871-67188921	GM19239	blood:	n/a
23	chr11:67183330-67183380	HCT-116	colon:	n/a
24	chr11:67188521-67188571	ECC-1	luminal epithelium:	n/a
25	chr11:67188491-67188541	SK-N-MC	brain:	n/a
26	chr11:67188696-67188746	A549	lung:	n/a
27	chr11:67183083-67183133	H1-hESC	embryonic stem cell:	embryo
28	chr11:67191275-67191325	NHBE	bronchial:	n/a
29	chr11:67184596-67184646	HCT-116	colon:	n/a
30	chr11:67188673-67188723	HCM	heart:	n/a
31	chr11:67183546-67183596	LNCaP	prostate:	n/a
32	chr11:67183498-67183548	HCM	heart:	n/a
33	chr11:67188673-67188723	GM19239	blood:	n/a
34	chr11:67183083-67183133	GM12891	blood:	n/a
35	chr11:67182724-67182774	SKMC	muscle:	n/a
36	chr11:67183080-67183130	MCF10A-Er-Src	breast:	n/a
37	chr11:67182724-67182774	Hepatocyte	liver:	n/a
38	chr11:67183148-67183198	NH-A	brain:	n/a
39	chr11:67182672-67182722	NT2-D1	testis:	n/a
40	chr11:67182488-67182538	ECC-1	luminal epithelium:	n/a
41	chr11:67183148-67183198	SK-N-MC	brain:	n/a
42	chr11:67191275-67191325	NB4	blood:	n/a
43	chr11:67188192-67188242	HNPCEpiC	eye:	n/a
44	chr11:67191412-67191462	HEEpiC	esophagus:	n/a
45	chr11:67188491-67188541	HepG2	liver:	n/a
46	chr11:67191412-67191462	BJ	skin:	n/a
47	chr11:67191275-67191325	HL-60	blood:	n/a
48	chr11:67183546-67183596	NH-A	brain:	n/a
49	chr11:67183330-67183380	GM06990	blood:	n/a
50	chr11:67184596-67184646	PANC-1	pancreas:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67178949..67181040-chr11:67275352..67277898,2	K562	blood:
2	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
3	chr11:67180570..67183103-chr11:67271029..67272927,2	K562	blood:
4	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
5	chr11:67176577..67178931-chr11:67250966..67253943,2	MCF-7	breast:
6	chr11:67184311..67187046-chr11:67307232..67309565,2	K562	blood:
7	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:
8	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
9	chr11:67168977..67169771-chr11:67188130..67189217,5	K562	blood:
10	chr11:67187592..67190127-chr11:67230614..67234165,3	K562	blood:
11	chr11:67119033..67122416-chr11:67186034..67189246,4	K562	blood:
12	chr11:67054592..67057284-chr11:67183944..67185616,2	MCF-7	breast:
13	chr11:67147040..67148988-chr11:67186808..67188399,2	K562	blood:
14	chr11:67190801..67193433-chr11:67271634..67274459,2	MCF-7	breast:
15	chr11:67187671..67190437-chr11:67260669..67262502,2	MCF-7	breast:
16	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
17	chr11:67177049..67178732-chr17:56707856..56710336,2	MCF-7	breast:
18	chr11:67185700..67187766-chr11:67250423..67251941,2	K562	blood:
19	chr11:67190568..67192849-chr11:67232756..67235079,2	K562	blood:
20	chr11:67177350..67179552-chr11:67244883..67247528,2	K562	blood:
21	chr11:67177386..67180366-chr17:57935264..57937336,3	MCF-7	breast:
22	chr11:67184903..67187466-chr11:67255096..67257240,2	K562	blood:
23	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
24	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
25	chr11:67140365..67142235-chr11:67187974..67189991,2	K562	blood:
26	chr11:67117328..67119147-chr11:67188918..67191824,2	K562	blood:
27	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
28	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
29	chr11:67187544..67192614-chr11:67201349..67205044,6	K562	blood:
30	chr11:67185175..67187264-chr11:67247117..67248962,2	K562	blood:
31	chr11:67185544..67187965-chr11:67270918..67273442,2	MCF-7	breast:
32	chr11:67176964..67178797-chr11:67202823..67204626,2	K562	blood:
33	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
34	chr11:67186236..67188568-chr11:67242107..67244785,2	MCF-7	breast:
35	chr11:67179246..67180965-chr11:67201278..67203605,2	K562	blood:
36	chr11:67123397..67125760-chr11:67179408..67181042,2	K562	blood:
37	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARNS1-1	chr11:67180162-67180443	ENSG00000255698.1
2	lnc-CARNS1-2	chr11:67182839-67182957	NONHSAT022419
3	lnc-CARNS1-2	chr11:67182439-67182687	NONHSAT022419
4	lnc-CARNS1-1	chr11:67181009-67181038	ENSG00000255698.1

No data

Variant related genes	Relation type
RPS6KB2	TF binding region
PPP1CA	TF binding region
CARNS1	TF binding region
RPS6KB2	CpG island
PPP1CA	CpG island
CARNS1	CpG island
ENSG00000256514	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000244152	chromatin interactions
ENSG00000167799	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000167797	chromatin interactions

Extended variants
information (count: 536 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1638587	chr11:67177797-67177798	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192023696	chr11:67177811-67177812	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs573651219	chr11:67177828-67177829	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs534717720	chr11:67177830-67177831	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs553156546	chr11:67177856-67177857	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs578073335	chr11:67177941-67177942	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs34944365	chr11:67177962-67177963	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs545247855	chr11:67177974-67177975	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs529579057	chr11:67177980-67177981	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs563951516	chr11:67177982-67177983	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs575997368	chr11:67177993-67177994	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs543300190	chr11:67178030-67178031	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs561573274	chr11:67178041-67178042	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs551320573	chr11:67178106-67178107	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs540894766	chr11:67178124-67178125	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs375233538	chr11:67178138-67178139	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs569564300	chr11:67178147-67178148	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs541039461	chr11:67178148-67178149	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs559169939	chr11:67178177-67178178	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs74852467	chr11:67178178-67178179	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs551284236	chr11:67178195-67178196	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs569873826	chr11:67178301-67178302	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs530628039	chr11:67178302-67178303	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs552190784	chr11:67178319-67178320	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs548837420	chr11:67178352-67178353	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs146487107	chr11:67178376-67178377	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs570451452	chr11:67178384-67178385	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs534681757	chr11:67178406-67178407	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs117541694	chr11:67178438-67178439	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs534416947	chr11:67178467-67178468	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs113036143	chr11:67178516-67178517	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs34999442	chr11:67178531-67178532	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs571645847	chr11:67178538-67178539	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs532901331	chr11:67178543-67178544	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs376408598	chr11:67178545-67178546	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs557182053	chr11:67178577-67178578	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs147909638	chr11:67178581-67178582	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs543269365	chr11:67178633-67178634	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs117249785	chr11:67178657-67178658	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs1790754	chr11:67178658-67178659	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573615535	chr11:67178671-67178672	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs77875876	chr11:67178695-67178696	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs556953651	chr11:67178708-67178709	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs185225508	chr11:67178785-67178786	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs532877983	chr11:67178801-67178802	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs188094557	chr11:67178812-67178813	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs563065259	chr11:67178869-67178870	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs575527762	chr11:67178877-67178878	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs368332750	chr11:67178924-67178925	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs372016174	chr11:67178954-67178955	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1186 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67169800-67177800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:67169800-67178000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
4	chr11:67171600-67177800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
5	chr11:67172400-67177800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr11:67172400-67177800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:67172400-67178000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr11:67172600-67177800	Weak transcription	K562	blood
10	chr11:67172600-67178400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:67173800-67177800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:67173800-67177800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:67173800-67178400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
14	chr11:67173800-67181000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr11:67174000-67182200	Enhancers	Brain Hippocampus Middle	brain
16	chr11:67174200-67177800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:67174200-67177800	Enhancers	Brain Substantia Nigra	brain
18	chr11:67174200-67181200	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:67174400-67179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:67174400-67181200	Enhancers	Brain Angular Gyrus	brain
21	chr11:67174400-67181400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr11:67175000-67178200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:67175400-67177800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr11:67175400-67181200	Enhancers	Brain Anterior Caudate	brain
25	chr11:67175600-67177800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:67175800-67178400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:67175800-67178600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:67176000-67177800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
29	chr11:67176000-67178200	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr11:67176000-67178200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:67176200-67178400	Enhancers	Right Ventricle	heart
32	chr11:67176400-67177800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:67176400-67182400	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:67176600-67178200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:67176600-67178200	Enhancers	Primary B cells from cord blood	blood
36	chr11:67176600-67179000	Bivalent Enhancer	Placenta	Placenta
37	chr11:67176800-67178200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:67176800-67178200	Enhancers	Lung	lung
39	chr11:67177000-67178000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:67177000-67178200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr11:67177000-67179200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:67177000-67179600	Weak transcription	Esophagus	oesophagus
43	chr11:67177000-67181200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr11:67177200-67177800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:67177200-67177800	Transcr. at gene 5' and 3'	Thymus	Thymus
46	chr11:67177200-67178000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr11:67177200-67178000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:67177200-67178000	Enhancers	Fetal Intestine Small	intestine
49	chr11:67177200-67178200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
50	chr11:67177200-67178400	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links