Variant report

Variant	esv3354576
Chromosome Location	chr11:46938801-46941349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:207)
CpG islands
(count:428)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:207 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:46941337-46941756	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:46938740-46939002	HepG2	liver:	n/a	n/a
3	CCNT2	chr11:46939796-46940030	K562	blood:	n/a	n/a
4	CEBPD	chr11:46938653-46939054	HepG2	liver:	n/a	n/a
5	CHD1	chr11:46939739-46939743	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr11:46938331-46938907	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr11:46940015-46940045	GM12878	blood:	n/a	n/a
8	CHD2	chr11:46939662-46939772	HepG2	liver:	n/a	n/a
9	CHD2	chr11:46938323-46938871	HepG2	liver:	n/a	n/a
10	CHD2	chr11:46939968-46940155	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr11:46939656-46940163	A549	lung:	n/a	n/a
12	CTBP2	chr11:46938151-46940037	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:46939753-46940033	T-47D	breast:	n/a	chr11:46939829-46939842
14	CTCF	chr11:46939859-46939970	GM19240	blood:	n/a	n/a
15	CTCF	chr11:46939835-46940051	IMR90	lung:	n/a	n/a
16	CTCF	chr11:46939883-46939911	A549	lung:	n/a	n/a
17	CTCF	chr11:46939800-46939950	HUVEC	blood vessel:	n/a	chr11:46939829-46939842
18	CTCF	chr11:46939840-46939997	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr11:46939811-46940002	MCF-7	breast:	n/a	chr11:46939829-46939842
20	CTCF	chr11:46939780-46939930	Caco-2	colon:	n/a	chr11:46939829-46939842
21	CTCF	chr11:46940547-46940601	Lung_OC	lung:	n/a	n/a
22	CTCF	chr11:46939886-46939936	GM19239	blood:	n/a	n/a
23	CTCF	chr11:46939840-46939990	GM12871	blood:	n/a	n/a
24	CTCF	chr11:46939797-46940011	MCF-7	breast:	n/a	chr11:46939829-46939842
25	CTCF	chr11:46939833-46939972	GM12892	blood:	n/a	n/a
26	CTCF	chr11:46939760-46939910	GM12865	blood:	n/a	chr11:46939829-46939842
27	CTCF	chr11:46939894-46939964	LNCaP	prostate:	n/a	n/a
28	CTCF	chr11:46941120-46941270	AG10803	skin:	n/a	n/a
29	CTCF	chr11:46939800-46939950	NHEK	skin:	n/a	chr11:46939829-46939842
30	CTCF	chr11:46941106-46941903	SK-N-SH	brain:	n/a	n/a
31	CTCF	chr11:46939840-46939990	GM12868	blood:	n/a	n/a
32	CTCF	chr11:46939833-46939964	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:46939760-46939910	GM12866	blood:	n/a	chr11:46939829-46939842
34	CTCF	chr11:46940300-46940450	HEK293	kidney:	n/a	n/a
35	CTCF	chr11:46939858-46939954	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:46939867-46939916	Lung_OC	lung:	n/a	n/a
37	CTCF	chr11:46939835-46939963	NHEK	skin:	n/a	n/a
38	CTCF	chr11:46939800-46939950	AG09319	gingival:	n/a	chr11:46939829-46939842
39	CTCF	chr11:46939820-46939970	WERI-Rb-1	eye:	n/a	chr11:46939829-46939842
40	CTCF	chr11:46939820-46939970	SK-N-SH_RA	brain:	n/a	chr11:46939829-46939842
41	CTCF	chr11:46941140-46941290	HCM	heart:	n/a	n/a
42	CTCF	chr11:46939860-46940010	GM12866	blood:	n/a	n/a
43	CTCF	chr11:46939800-46939950	HCPEpiC	choroid plexus:	n/a	chr11:46939829-46939842
44	CTCF	chr11:46941182-46942900	A549	lung:	n/a	n/a
45	CTCF	chr11:46939876-46939909	GM13976	blood:	n/a	n/a
46	CTCF	chr11:46939500-46939650	A549	lung:	n/a	n/a
47	CTCF	chr11:46939764-46940071	K562	blood:	n/a	chr11:46939829-46939842
48	CTCF	chr11:46939540-46939690	GM12870	blood:	n/a	n/a
49	CTCF	chr11:46941309-46941833	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:46939873-46939992	Pancreas_OC	pancreas:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46940517-46940567	HEEpiC	esophagus:	n/a
2	chr11:46940517-46940567	HEEpiC	esophagus:	n/a
3	chr11:46940613-46940663	AG09319	gingival:	n/a
4	chr11:46939616-46939666	SK-N-SH	brain:	n/a
5	chr11:46940434-46940484	HMEC	breast:	n/a
6	chr11:46940434-46940484	GM06990	blood:	n/a
7	chr11:46940613-46940663	AG04450	lung:	fetal
8	chr11:46940517-46940567	NT2-D1	testis:	n/a
9	chr11:46939436-46939486	HAEpiC	amniotic membrane:	n/a
10	chr11:46939616-46939666	HEEpiC	esophagus:	n/a
11	chr11:46940465-46940515	HRE	kidney:	n/a
12	chr11:46939616-46939666	AG09319	gingival:	n/a
13	chr11:46939616-46939666	GM12892	blood:	n/a
14	chr11:46940613-46940663	HNPCEpiC	eye:	n/a
15	chr11:46940517-46940567	GM19239	blood:	n/a
16	chr11:46940220-46940270	AG10803	skin:	n/a
17	chr11:46939436-46939486	SK-N-SH_RA	brain:	n/a
18	chr11:46940434-46940484	NB4	blood:	n/a
19	chr11:46940465-46940515	HRPEpiC	eye:	n/a
20	chr11:46940613-46940663	ProgFib	skin:	n/a
21	chr11:46940434-46940484	RPTEC	kidney:	n/a
22	chr11:46940517-46940567	HCT-116	colon:	n/a
23	chr11:46939436-46939486	GM12878	blood:	n/a
24	chr11:46939616-46939666	RPTEC	kidney:	n/a
25	chr11:46940220-46940270	A549	lung:	n/a
26	chr11:46940517-46940567	RPTEC	kidney:	n/a
27	chr11:46939436-46939486	HL-60	blood:	n/a
28	chr11:46940613-46940663	HEK293	kidney:	embryo
29	chr11:46940517-46940567	HCPEpiC	choroid plexus:	n/a
30	chr11:46940517-46940567	HCF	heart:	n/a
31	chr11:46940434-46940484	HCPEpiC	choroid plexus:	n/a
32	chr11:46939436-46939486	HCPEpiC	choroid plexus:	n/a
33	chr11:46939436-46939486	AG10803	skin:	n/a
34	chr11:46940434-46940484	NH-A	brain:	n/a
35	chr11:46940220-46940270	HUVEC	blood vessel:	n/a
36	chr11:46940220-46940270	SK-N-SH	brain:	n/a
37	chr11:46940613-46940663	K562	blood:	n/a
38	chr11:46940434-46940484	PFSK-1	brain:	n/a
39	chr11:46939436-46939486	HCM	heart:	n/a
40	chr11:46940613-46940663	ovcar-3	ovarian:	n/a
41	chr11:46940517-46940567	GM12878	blood:	n/a
42	chr11:46940465-46940515	AG04450	lung:	fetal
43	chr11:46939616-46939666	NH-A	brain:	n/a
44	chr11:46940220-46940270	Jurkat	blood:	n/a
45	chr11:46940434-46940484	MCF-7	breast:	n/a
46	chr11:46940220-46940270	AG09309	skin:	n/a
47	chr11:46940517-46940567	PANC-1	pancreas:	n/a
48	chr11:46939436-46939486	A549	lung:	n/a
49	chr11:46940434-46940484	AG09309	skin:	n/a
50	chr11:46940613-46940663	ECC-1	luminal epithelium:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46936734..46939030-chr11:46940693..46942577,2	K562	blood:
2	chr11:46941107..46942004-chr11:47044229..47044846,2	K562	blood:
3	chr11:46938691..46940925-chr17:56734920..56736797,2	MCF-7	breast:
4	chr11:46941286..46942092-chr11:47174349..47175242,5	MCF-7	breast:
5	chr11:46941127..46942012-chr11:47174363..47175170,3	MCF-7	breast:
6	chr11:46846941..46849918-chr11:46939245..46941639,2	MCF-7	breast:
7	chr11:46933810..46936759-chr11:46937673..46939969,2	MCF-7	breast:
8	chr11:46940215..46942455-chr11:47173269..47176322,3	MCF-7	breast:
9	chr11:46941205..46942113-chr11:47182281..47183725,5	K562	blood:
10	chr11:46933026..46934959-chr11:46937593..46939848,2	K562	blood:
11	chr11:46936734..46939030-chr11:46940693..46942577,2	K562	blood:
12	chr11:46941180..46942052-chr11:47174287..47175251,5	K562	blood:

No data

Variant related genes	Relation type
LRP4	TF binding region
LRP4	CpG island
ENSG00000149179	chromatin interactions
ENSG00000175216	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145213032	chr11:46938827-46938828	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577037161	chr11:46938832-46938833	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs137944849	chr11:46938890-46938891	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562462945	chr11:46938905-46938906	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531198756	chr11:46938949-46938950	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141661216	chr11:46938957-46938958	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575884747	chr11:46938962-46938963	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7940441	chr11:46939027-46939028	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs191655411	chr11:46939065-46939066	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113944174	chr11:46939100-46939101	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374061301	chr11:46939175-46939176	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77903697	chr11:46939214-46939215	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564674867	chr11:46939215-46939216	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533636865	chr11:46939237-46939238	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182528354	chr11:46939260-46939261	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570377128	chr11:46939265-46939266	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs535456845	chr11:46939284-46939285	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs186895351	chr11:46939311-46939312	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565799229	chr11:46939335-46939336	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189767750	chr11:46939361-46939362	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113105622	chr11:46939506-46939507	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs375821993	chr11:46939511-46939512	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs73460019	chr11:46939514-46939515	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184000643	chr11:46939586-46939587	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs539660204	chr11:46939599-46939600	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs556180715	chr11:46939649-46939650	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs182083920	chr11:46939659-46939660	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576320524	chr11:46939677-46939678	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541813133	chr11:46939700-46939701	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565392441	chr11:46939722-46939723	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561689236	chr11:46939723-46939724	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10437654	chr11:46939747-46939748	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs541139144	chr11:46939841-46939842	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs564250503	chr11:46939844-46939845	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533361745	chr11:46939870-46939871	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550380380	chr11:46939918-46939919	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563810265	chr11:46939932-46939933	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529556726	chr11:46940037-46940038	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs111383894	chr11:46940118-46940119	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565737367	chr11:46940167-46940168	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs78245588	chr11:46940293-46940294	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs551450837	chr11:46940413-46940414	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs571758601	chr11:46940417-46940418	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs539241361	chr11:46940434-46940435	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs369313485	chr11:46940440-46940441	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs556339541	chr11:46940501-46940502	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs371940629	chr11:46940541-46940542	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs565248827	chr11:46940543-46940544	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs530957838	chr11:46940609-46940610	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576230114	chr11:46940652-46940653	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46933600-46939000	Enhancers	Spleen	Spleen
2	chr11:46934400-46939000	Weak transcription	Hela-S3	cervix
3	chr11:46937600-46939000	Active TSS	Brain Hippocampus Middle	brain
4	chr11:46937600-46939800	Active TSS	Fetal Kidney	kidney
5	chr11:46937800-46939000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:46937800-46939200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:46937800-46939400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr11:46937800-46939400	Flanking Active TSS	HMEC	breast
9	chr11:46937800-46939800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:46937800-46940400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:46937800-46940400	Active TSS	Brain Anterior Caudate	brain
12	chr11:46937800-46940400	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:46937800-46940400	Active TSS	HSMMtube	muscle
14	chr11:46938000-46939200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr11:46938000-46939200	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr11:46938000-46939200	Active TSS	Right Atrium	heart
17	chr11:46938000-46939400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
18	chr11:46938000-46939400	Flanking Active TSS	NHEK	skin
19	chr11:46938000-46939600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:46938000-46939600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:46938000-46939600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr11:46938000-46939600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:46938000-46939600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
24	chr11:46938000-46939600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr11:46938000-46939600	Flanking Active TSS	Placenta	Placenta
26	chr11:46938000-46939600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:46938000-46939600	Flanking Active TSS	Osteobl	bone
28	chr11:46938000-46939800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
29	chr11:46938000-46940400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:46938000-46940600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:46938000-46940600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:46938000-46940600	Active TSS	Ovary	ovary
33	chr11:46938000-46940600	Flanking Bivalent TSS/Enh	Thymus	Thymus
34	chr11:46938000-46940800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr11:46938000-46940800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr11:46938000-46941200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:46938200-46939000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:46938200-46939000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:46938200-46939000	Active TSS	Fetal Stomach	stomach
40	chr11:46938200-46939000	Active TSS	Psoas Muscle	Psoas
41	chr11:46938200-46939200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:46938200-46939200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr11:46938200-46939200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:46938200-46939400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
45	chr11:46938200-46939400	Flanking Active TSS	Liver	Liver
46	chr11:46938200-46939600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr11:46938200-46939600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:46938200-46939600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
49	chr11:46938200-46939600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
50	chr11:46938200-46939600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--

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