Variant report

Variant	esv1811233
Chromosome Location	chr11:67186271-67193108
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:429)
CpG islands
(count:793)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr11:67188387-67188748	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr11:67190239-67190362	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr11:67187790-67187821	K562	blood:	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	chr11:67188258-67188614	HepG2	liver:	n/a	chr11:67188345-67188361
8	BHLHE40	chr11:67188429-67188611	GM12878	blood:	n/a	n/a
9	BHLHE40	chr11:67188009-67188193	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:67188399-67188616	K562	blood:	n/a	n/a
11	BHLHE40	chr11:67188067-67188131	K562	blood:	n/a	n/a
12	BRCA1	chr11:67188731-67188974	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr11:67189986-67190345	K562	blood:	n/a	n/a
14	CBX3	chr11:67188439-67188784	K562	blood:	n/a	n/a
15	CCNT2	chr11:67188066-67188877	K562	blood:	n/a	n/a
16	CEBPB	chr11:67189709-67189867	K562	blood:	n/a	n/a
17	CEBPD	chr11:67188359-67188608	HepG2	liver:	n/a	n/a
18	CHD1	chr11:67188358-67188557	GM12878	blood:	n/a	chr11:67188391-67188401
19	CHD2	chr11:67188578-67188798	GM12878	blood:	n/a	n/a
20	CHD2	chr11:67188418-67189043	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr11:67188532-67188534	K562	blood:	n/a	n/a
22	CHD2	chr11:67188743-67188905	H1-hESC	embryonic stem cell:	n/a	n/a
23	CREB1	chr11:67188260-67188936	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr11:67188359-67188879	K562	blood:	n/a	n/a
25	CREB1	chr11:67188052-67189099	A549	lung:	n/a	n/a
26	CTCF	chr11:67186980-67187130	GM12868	blood:	n/a	n/a
27	CTCF	chr11:67190120-67190270	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:67188099-67188226	Fibrobl	skin:	n/a	n/a
29	CTCF	chr11:67189060-67189210	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:67189050-67189185	NHEK	skin:	n/a	n/a
31	CTCF	chr11:67188040-67188190	GM12874	blood:	n/a	n/a
32	CTCF	chr11:67188280-67188430	GM12866	blood:	n/a	n/a
33	CTCF	chr11:67186820-67186970	GM12870	blood:	n/a	n/a
34	CTCF	chr11:67188102-67188157	GM12878	blood:	n/a	n/a
35	CTCF	chr11:67189000-67189150	HMEC	breast:	n/a	n/a
36	CTCF	chr11:67188880-67189030	Caco-2	colon:	n/a	n/a
37	CTCF	chr11:67188093-67188190	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr11:67188081-67188232	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:67186820-67186970	GM12868	blood:	n/a	n/a
40	CTCF	chr11:67192560-67192710	HepG2	liver:	n/a	n/a
41	CTCF	chr11:67188017-67188225	GM12891	blood:	n/a	n/a
42	CTCF	chr11:67189060-67189210	HepG2	liver:	n/a	n/a
43	CTCF	chr11:67188552-67188658	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr11:67190480-67190630	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr11:67188940-67189090	HMEC	breast:	n/a	n/a
46	CTCF	chr11:67186860-67187010	HepG2	liver:	n/a	n/a
47	CTCF	chr11:67186860-67187010	GM12872	blood:	n/a	n/a
48	CTCF	chr11:67188114-67188227	Pancreas_OC	pancreas:	n/a	n/a
49	CTCF	chr11:67188520-67188670	AG04449	skin:	n/a	n/a
50	CTCF	chr11:67188123-67188210	GM12892	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67188696-67188746	HMEC	breast:	n/a
2	chr11:67188491-67188541	AG04450	lung:	fetal
3	chr11:67186575-67186625	HIPEpiC	eye:	n/a
4	chr11:67188673-67188723	AG04450	lung:	fetal
5	chr11:67188521-67188571	GM19239	blood:	n/a
6	chr11:67191526-67191576	HepG2	liver:	n/a
7	chr11:67186575-67186625	ECC-1	luminal epithelium:	n/a
8	chr11:67191412-67191462	HAEpiC	amniotic membrane:	n/a
9	chr11:67189121-67189171	SK-N-MC	brain:	n/a
10	chr11:67189121-67189171	H1-hESC	embryonic stem cell:	embryo
11	chr11:67188696-67188746	GM12878	blood:	n/a
12	chr11:67188192-67188242	AoSMC	blood vessel:	n/a
13	chr11:67192596-67192646	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:67188871-67188921	HCPEpiC	choroid plexus:	n/a
15	chr11:67191412-67191462	SK-N-MC	brain:	n/a
16	chr11:67191526-67191576	SK-N-SH	brain:	n/a
17	chr11:67188491-67188541	AG10803	skin:	n/a
18	chr11:67186575-67186625	PANC-1	pancreas:	n/a
19	chr11:67191412-67191462	HUVEC	blood vessel:	n/a
20	chr11:67191275-67191325	GM12892	blood:	n/a
21	chr11:67186575-67186625	HCM	heart:	n/a
22	chr11:67188673-67188723	HPAEpiC	pulmonary alveolar:	n/a
23	chr11:67191275-67191325	HNPCEpiC	eye:	n/a
24	chr11:67189121-67189171	MCF10A-Er-Src	breast:	n/a
25	chr11:67189121-67189171	NHBE	bronchial:	n/a
26	chr11:67188696-67188746	H1-hESC	embryonic stem cell:	embryo
27	chr11:67188521-67188571	IMR90	lung:	fetal
28	chr11:67192596-67192646	HUVEC	blood vessel:	n/a
29	chr11:67191773-67191823	HMEC	breast:	n/a
30	chr11:67192596-67192646	RPTEC	kidney:	n/a
31	chr11:67188521-67188571	SK-N-SH_RA	brain:	n/a
32	chr11:67192596-67192646	AG04450	lung:	fetal
33	chr11:67191773-67191823	HCPEpiC	choroid plexus:	n/a
34	chr11:67191275-67191325	MCF-7	breast:	n/a
35	chr11:67191275-67191325	HRE	kidney:	n/a
36	chr11:67191526-67191576	T-47D	breast:	n/a
37	chr11:67189121-67189171	Hela-S3	cervix:	n/a
38	chr11:67191412-67191462	HIPEpiC	eye:	n/a
39	chr11:67188192-67188242	BE2_C	brain:	n/a
40	chr11:67188521-67188571	K562	blood:	n/a
41	chr11:67191526-67191576	Hela-S3	cervix:	n/a
42	chr11:67188521-67188571	GM12878	blood:	n/a
43	chr11:67191773-67191823	PANC-1	pancreas:	n/a
44	chr11:67186575-67186625	SK-N-MC	brain:	n/a
45	chr11:67188696-67188746	SK-N-SH	brain:	n/a
46	chr11:67188521-67188571	Hepatocyte	liver:	n/a
47	chr11:67191526-67191576	ECC-1	luminal epithelium:	n/a
48	chr11:67191773-67191823	LNCaP	prostate:	n/a
49	chr11:67191412-67191462	GM12891	blood:	n/a
50	chr11:67191526-67191576	IMR90	lung:	fetal

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67190801..67193433-chr11:67271634..67274459,2	MCF-7	breast:
2	chr11:67186666..67189529-chr11:67272076..67275550,4	K562	blood:
3	chr11:67188329..67190078-chr11:67395497..67397471,2	K562	blood:
4	chr11:67168977..67169771-chr11:67188130..67189217,5	K562	blood:
5	chr11:67184903..67187466-chr11:67255096..67257240,2	K562	blood:
6	chr11:67138903..67140672-chr11:67189332..67192243,2	K562	blood:
7	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
8	chr11:67187544..67192614-chr11:67201349..67205044,6	K562	blood:
9	chr11:67185700..67187766-chr11:67250423..67251941,2	K562	blood:
10	chr11:67187592..67190127-chr11:67230614..67234165,3	K562	blood:
11	chr11:67187290..67189722-chr11:67250373..67251986,2	K562	blood:
12	chr11:67140365..67142235-chr11:67187974..67189991,2	K562	blood:
13	chr11:67119033..67122416-chr11:67186034..67189246,4	K562	blood:
14	chr11:67186666..67191064-chr11:67273296..67275634,4	K562	blood:
15	chr11:67190568..67192849-chr11:67232756..67235079,2	K562	blood:
16	chr11:67185544..67187965-chr11:67270918..67273442,2	MCF-7	breast:
17	chr11:67186236..67188568-chr11:67242107..67244785,2	MCF-7	breast:
18	chr11:67184311..67187046-chr11:67307232..67309565,2	K562	blood:
19	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
20	chr11:67187671..67190437-chr11:67260669..67262502,2	MCF-7	breast:
21	chr11:67147040..67148988-chr11:67186808..67188399,2	K562	blood:
22	chr11:67185175..67187264-chr11:67247117..67248962,2	K562	blood:
23	chr11:67117328..67119147-chr11:67188918..67191824,2	K562	blood:
24	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:

No data

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

Extended variants
information (count: 289 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs868167	chr11:67186271-67186272	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61744660	chr11:67186287-67186288	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs542490944	chr11:67186360-67186361	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs566809895	chr11:67186369-67186370	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs368228836	chr11:67186371-67186372	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs144408240	chr11:67186385-67186386	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs372520034	chr11:67186415-67186416	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs546961055	chr11:67186416-67186417	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs386754480	chr11:67186419-67186420	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs61743296	chr11:67186420-67186421	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371563404	chr11:67186438-67186439	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs376709211	chr11:67186443-67186444	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs534178263	chr11:67186471-67186472	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs569391532	chr11:67186485-67186486	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs530302411	chr11:67186499-67186500	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs548526914	chr11:67186515-67186516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs527477769	chr11:67186549-67186550	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs534266295	chr11:67186579-67186580	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs61746685	chr11:67186613-67186614	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570881759	chr11:67186616-67186617	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs538261452	chr11:67186617-67186618	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs373286905	chr11:67186653-67186654	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs555844960	chr11:67186656-67186657	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs575023651	chr11:67186670-67186671	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs199632556	chr11:67186675-67186676	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs181358688	chr11:67186686-67186687	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs573001715	chr11:67186700-67186701	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs3940303	chr11:67186706-67186707	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs540110917	chr11:67186709-67186710	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs565201901	chr11:67186714-67186715	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs376778686	chr11:67186727-67186728	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs532517675	chr11:67186744-67186745	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs111526181	chr11:67186752-67186753	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs369483328	chr11:67186766-67186767	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs544654875	chr11:67186776-67186777	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs562949242	chr11:67186795-67186796	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs551982188	chr11:67186808-67186809	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs570411360	chr11:67186826-67186827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs185576372	chr11:67186879-67186880	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs566911260	chr11:67186905-67186906	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs527906068	chr11:67186941-67186942	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs373726393	chr11:67186945-67186946	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs201222265	chr11:67186958-67186959	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs570844079	chr11:67186988-67186989	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs370587703	chr11:67186989-67186990	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs41302427	chr11:67186995-67186996	Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375601665	chr11:67187007-67187008	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs370411760	chr11:67187011-67187012	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs374499029	chr11:67187017-67187018	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs375626867	chr11:67187018-67187019	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	7 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:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67182400-67187200	Enhancers	Pancreas	Pancrea
2	chr11:67182600-67187600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:67182600-67188000	Enhancers	Spleen	Spleen
4	chr11:67183000-67186600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:67183000-67186800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:67183000-67187600	Enhancers	Fetal Thymus	thymus
7	chr11:67183000-67187600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:67183000-67187600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:67183000-67187800	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:67183000-67188000	Enhancers	Esophagus	oesophagus
11	chr11:67183000-67188000	Enhancers	Fetal Lung	lung
12	chr11:67183200-67187600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:67183200-67188000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:67183400-67187800	Enhancers	Right Ventricle	heart
15	chr11:67183400-67188000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:67183400-67188000	Enhancers	Left Ventricle	heart
17	chr11:67183400-67188200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr11:67183400-67188200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:67183600-67186600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:67183600-67187600	Weak transcription	Osteobl	bone
21	chr11:67183600-67187800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:67183600-67188000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:67183600-67188000	Enhancers	Right Atrium	heart
24	chr11:67183600-67188200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr11:67183800-67187800	Weak transcription	NHDF-Ad	bronchial
26	chr11:67183800-67188000	Enhancers	Gastric	stomach
27	chr11:67184000-67187800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:67184200-67187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:67184200-67187600	Weak transcription	Aorta	Aorta
30	chr11:67184200-67188200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:67184200-67188800	Enhancers	Placenta	Placenta
32	chr11:67184400-67187600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:67184400-67187800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:67184400-67188000	Enhancers	Psoas Muscle	Psoas
35	chr11:67184600-67187400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:67184600-67187600	Enhancers	Primary B cells from cord blood	blood
37	chr11:67184600-67187600	Weak transcription	Fetal Kidney	kidney
38	chr11:67184600-67187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:67184600-67187800	Enhancers	Brain Angular Gyrus	brain
40	chr11:67184800-67186400	Enhancers	Thymus	Thymus
41	chr11:67184800-67187200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:67184800-67187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:67184800-67187600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:67184800-67187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr11:67184800-67188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:67184800-67188200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr11:67185000-67186400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:67185000-67186400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:67185000-67186600	Weak transcription	Stomach Mucosa	stomach
50	chr11:67185000-67186800	Weak transcription	Hela-S3	cervix

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