Variant report

Variant	esv3404360
Chromosome Location	chr11:57242601-57245149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:402)
CpG islands
(count:183)
Chromatin interactive
region (count:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:402 , 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	BACH1	chr11:57243468-57244186	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr11:57245140-57245821	A549	lung:	n/a	n/a
3	BHLHE40	chr11:57243185-57244085	GM12878	blood:	n/a	n/a
4	BRCA1	chr11:57244405-57244702	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr11:57244316-57244323	H1-hESC	embryonic stem cell:	n/a	n/a
6	CCNT2	chr11:57243713-57244026	K562	blood:	n/a	n/a
7	CCNT2	chr11:57244247-57244332	K562	blood:	n/a	n/a
8	CEBPB	chr11:57243545-57244072	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr11:57244524-57244655	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr11:57243131-57243254	GM12878	blood:	n/a	n/a
11	CHD2	chr11:57243421-57244719	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr11:57243645-57243938	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr11:57243451-57244276	GM12878	blood:	n/a	n/a
14	CTCF	chr11:57244204-57244212	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:57245100-57245250	GM06990	blood:	n/a	n/a
16	CTCF	chr11:57244480-57244630	HCM	heart:	n/a	n/a
17	CTCF	chr11:57244480-57244630	GM12864	blood:	n/a	n/a
18	CTCF	chr11:57244031-57244290	GM19239	blood:	n/a	n/a
19	CTCF	chr11:57244480-57244630	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr11:57244460-57244610	AG09309	skin:	n/a	n/a
21	CTCF	chr11:57244500-57244650	GM12865	blood:	n/a	n/a
22	CTCF	chr11:57245040-57245190	HepG2	liver:	n/a	n/a
23	CTCF	chr11:57244470-57244643	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr11:57244500-57244650	HVMF	connective:	n/a	n/a
25	CTCF	chr11:57244500-57244650	BJ	skin:	n/a	n/a
26	CTCF	chr11:57245100-57245250	GM12872	blood:	n/a	n/a
27	CTCF	chr11:57244500-57244650	A549	lung:	n/a	n/a
28	CTCF	chr11:57244497-57244693	A549	lung:	n/a	n/a
29	CTCF	chr11:57244416-57244741	IMR90	lung:	n/a	chr11:57244433-57244442
30	CTCF	chr11:57244446-57244669	GM10266	blood:	n/a	n/a
31	CTCF	chr11:57244480-57244630	AG09319	gingival:	n/a	n/a
32	CTCF	chr11:57245040-57245190	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr11:57244800-57244950	HAc	cerebellar:	n/a	n/a
34	CTCF	chr11:57244526-57244613	ProgFib	skin:	n/a	n/a
35	CTCF	chr11:57244234-57244288	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:57244480-57244630	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr11:57244176-57244198	NHEK	skin:	n/a	n/a
38	CTCF	chr11:57244520-57244670	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr11:57244500-57244650	GM12801	blood:	n/a	n/a
40	CTCF	chr11:57244480-57244630	HMF	breast:	n/a	n/a
41	CTCF	chr11:57244841-57244857	GM19240	blood:	n/a	n/a
42	CTCF	chr11:57244460-57244610	WI-38	lung:	n/a	n/a
43	CTCF	chr11:57244068-57244293	GM12891	blood:	n/a	n/a
44	CTCF	chr11:57244069-57244212	GM13977	blood:	n/a	n/a
45	CTCF	chr11:57244500-57244650	GM12875	blood:	n/a	n/a
46	CTCF	chr11:57244480-57244618	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:57244560-57244710	HEK293	kidney:	n/a	n/a
48	CTCF	chr11:57244520-57244670	SAEC	small airway:	n/a	n/a
49	CTCF	chr11:57244500-57244650	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr11:57244460-57244610	AG10803	skin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57244416-57244466	SK-N-MC	brain:	n/a
2	chr11:57245109-57245159	AG04449	skin:	fetal
3	chr11:57243865-57243915	U87	brain:	n/a
4	chr11:57243865-57243915	HRCEpiC	kidney:	n/a
5	chr11:57245109-57245159	BE2_C	brain:	n/a
6	chr11:57245109-57245159	CMK	blood:	n/a
7	chr11:57245109-57245159	HCF	heart:	n/a
8	chr11:57243865-57243915	HIPEpiC	eye:	n/a
9	chr11:57243865-57243915	HCM	heart:	n/a
10	chr11:57244416-57244466	HIPEpiC	eye:	n/a
11	chr11:57245109-57245159	HNPCEpiC	eye:	n/a
12	chr11:57245109-57245159	Hepatocyte	liver:	n/a
13	chr11:57243865-57243915	Jurkat	blood:	n/a
14	chr11:57245109-57245159	HEEpiC	esophagus:	n/a
15	chr11:57243865-57243915	T-47D	breast:	n/a
16	chr11:57244416-57244466	GM06990	blood:	n/a
17	chr11:57244416-57244466	PrEC	prostate:	n/a
18	chr11:57243865-57243915	AoSMC	blood vessel:	n/a
19	chr11:57244416-57244466	HUVEC	blood vessel:	n/a
20	chr11:57245109-57245159	MCF-7	breast:	n/a
21	chr11:57243865-57243915	AG09319	gingival:	n/a
22	chr11:57243865-57243915	GM12878	blood:	n/a
23	chr11:57244416-57244466	GM12878	blood:	n/a
24	chr11:57244416-57244466	SK-N-SH_RA	brain:	n/a
25	chr11:57245109-57245159	HCT-116	colon:	n/a
26	chr11:57244416-57244466	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:57244416-57244466	MCF10A-Er-Src	breast:	n/a
28	chr11:57245109-57245159	PANC-1	pancreas:	n/a
29	chr11:57244416-57244466	HRPEpiC	eye:	n/a
30	chr11:57245109-57245159	HIPEpiC	eye:	n/a
31	chr11:57244416-57244466	ProgFib	skin:	n/a
32	chr11:57245109-57245159	AG09309	skin:	n/a
33	chr11:57243865-57243915	Hela-S3	cervix:	n/a
34	chr11:57244416-57244466	HMEC	breast:	n/a
35	chr11:57243865-57243915	HEEpiC	esophagus:	n/a
36	chr11:57243865-57243915	CMK	blood:	n/a
37	chr11:57244416-57244466	A549	lung:	n/a
38	chr11:57244416-57244466	HCT-116	colon:	n/a
39	chr11:57245109-57245159	BJ	skin:	n/a
40	chr11:57245109-57245159	PFSK-1	brain:	n/a
41	chr11:57243865-57243915	ovcar-3	ovarian:	n/a
42	chr11:57244416-57244466	SKMC	muscle:	n/a
43	chr11:57244416-57244466	Hela-S3	cervix:	n/a
44	chr11:57243865-57243915	K562	blood:	n/a
45	chr11:57245109-57245159	HRE	kidney:	n/a
46	chr11:57245109-57245159	IMR90	lung:	fetal
47	chr11:57245109-57245159	HEK293	kidney:	embryo
48	chr11:57243865-57243915	ProgFib	skin:	n/a
49	chr11:57244416-57244466	NHDF-neo	bronchial:	n/a
50	chr11:57243865-57243915	HRPEpiC	eye:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57245031..57247127-chr11:57247406..57249542,2	K562	blood:
2	chr11:57243815..57244541-chr7:30543821..30544802,2	Hela-S3	cervix:
3	chr11:57244066..57244696-chr11:57294446..57295016,2	Hela-S3	cervix:
4	chr11:57241323..57242908-chr11:57245144..57248142,2	MCF-7	breast:
5	chr11:57244134..57244774-chr16:2954529..2955345,2	Hela-S3	cervix:
6	chr11:57243749..57245778-chr11:57264332..57267920,3	MCF-7	breast:
7	chr11:57243633..57244208-chrX:40944240..40944913,2	Hela-S3	cervix:
8	chr11:57243872..57244499-chr19:18392024..18392697,2	Hela-S3	cervix:
9	chr11:57241323..57242908-chr11:57245144..57248142,2	MCF-7	breast:
10	chr11:57243885..57244747-chr17:16284279..16284941,2	Hela-S3	cervix:
11	chr11:57238280..57240844-chr11:57241461..57244057,2	K562	blood:
12	chr11:57240991..57243890-chr11:57248051..57250627,2	MCF-7	breast:
13	chr11:57226445..57228617-chr11:57241160..57242866,2	K562	blood:
14	chr11:57091125..57093687-chr11:57243997..57245679,2	MCF-7	breast:
15	chr11:57243206..57244051-chr15:66796884..66797509,2	Hela-S3	cervix:
16	chr11:57241042..57244897-chr11:57245318..57249265,7	K562	blood:
17	chr11:57227974..57230199-chr11:57243067..57246052,3	MCF-7	breast:
18	chr11:57240605..57243296-chr11:57255789..57257513,2	K562	blood:
19	chr11:57242576..57245304-chr11:57423792..57425526,2	MCF-7	breast:
20	chr11:57243239..57245827-chr11:57433789..57436480,2	K562	blood:
21	chr11:57243051..57244044-chr3:51976563..51977136,2	Hela-S3	cervix:
22	chr11:57227567..57231399-chr11:57243101..57246842,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC43A1-1	chr11:57244470-57245007	ENSG00000255301.1
2	lnc-SLC43A1-1	chr11:57243966-57244111	ENSG00000255301.1

No data

Variant related genes	Relation type
ENSG00000255301	TF binding region
ENSG00000255301	CpG island
ENSG00000186907	chromatin interactions
ENSG00000174444	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000170315	chromatin interactions
ENSG00000149115	chromatin interactions
ENSG00000124486	chromatin interactions
ENSG00000174442	chromatin interactions
ENSG00000156599	chromatin interactions
ENSG00000254662	chromatin interactions
ENSG00000041880	chromatin interactions
ENSG00000006625	chromatin interactions
ENSG00000172409	chromatin interactions
ENSG00000149150	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 56 )

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	rs561147570	chr11:57242609-57242610	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs78205951	chr11:57242621-57242622	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs183648890	chr11:57242695-57242696	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571642708	chr11:57242709-57242710	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371760865	chr11:57242713-57242714	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146751069	chr11:57242767-57242768	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs113763761	chr11:57242845-57242846	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547125156	chr11:57242874-57242875	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565662576	chr11:57242944-57242945	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139543777	chr11:57242951-57242952	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202145892	chr11:57243013-57243014	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554660031	chr11:57243021-57243022	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79823458	chr11:57243033-57243034	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77444975	chr11:57243034-57243035	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556137497	chr11:57243053-57243054	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537211648	chr11:57243077-57243078	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs558760931	chr11:57243234-57243235	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs115914092	chr11:57243284-57243285	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs187967751	chr11:57243295-57243296	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs553887118	chr11:57243367-57243368	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs12282980	chr11:57243373-57243374	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542775493	chr11:57243516-57243517	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs146535978	chr11:57243526-57243527	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs114279729	chr11:57243577-57243578	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs543637802	chr11:57243579-57243580	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs116868996	chr11:57243584-57243585	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs2258835	chr11:57243588-57243589	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs201754232	chr11:57243602-57243603	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs565544603	chr11:57243625-57243626	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs146965798	chr11:57243673-57243674	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs137987052	chr11:57243725-57243726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs61742398	chr11:57243736-57243737	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs199505339	chr11:57243769-57243770	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs138330746	chr11:57243811-57243812	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs529882560	chr11:57243838-57243839	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs377537062	chr11:57243898-57243899	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs112256208	chr11:57243929-57243930	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs573081832	chr11:57243943-57243944	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs199684584	chr11:57244054-57244055	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
40	rs370242778	chr11:57244075-57244076	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
41	rs112884577	chr11:57244093-57244094	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
42	rs537138443	chr11:57244120-57244121	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs182340780	chr11:57244127-57244128	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs570584153	chr11:57244180-57244181	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs534615607	chr11:57244189-57244190	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs374895424	chr11:57244195-57244196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs367561878	chr11:57244277-57244278	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs141304388	chr11:57244296-57244297	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs373734372	chr11:57244324-57244325	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs566251446	chr11:57244339-57244340	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Angio-oedema	21790735	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57240200-57243400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:57240400-57244000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:57240600-57243000	Weak transcription	Liver	Liver
4	chr11:57240600-57243400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr11:57240800-57243400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:57240800-57243600	Bivalent Enhancer	Fetal Stomach	stomach
7	chr11:57241000-57243200	Enhancers	Primary B cells from cord blood	blood
8	chr11:57241200-57243400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr11:57241400-57243200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr11:57241400-57243400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr11:57241400-57243400	Enhancers	A549	lung
12	chr11:57241400-57243600	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:57241400-57243600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:57241600-57243400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:57241600-57243400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:57241600-57243400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:57241600-57243400	Enhancers	Right Ventricle	heart
18	chr11:57241600-57243600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr11:57241600-57243600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr11:57241800-57242800	Enhancers	K562	blood
21	chr11:57241800-57243600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:57242000-57243200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr11:57242000-57243200	Weak transcription	Esophagus	oesophagus
24	chr11:57242000-57243200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:57242000-57243400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:57242000-57244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:57242000-57244800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:57242200-57243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:57242200-57243200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:57242200-57243400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr11:57242200-57243400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:57242200-57243400	Weak transcription	Gastric	stomach
33	chr11:57242200-57243400	Weak transcription	Right Atrium	heart
34	chr11:57242200-57243600	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:57242200-57244400	Bivalent Enhancer	Fetal Brain Male	brain
36	chr11:57242200-57246400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:57242400-57242800	Enhancers	HepG2	liver
38	chr11:57242400-57243200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr11:57242400-57243400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
40	chr11:57242400-57243400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:57242400-57243400	Weak transcription	Pancreas	Pancrea
42	chr11:57242400-57243800	Flanking Active TSS	Hela-S3	cervix
43	chr11:57242400-57244200	Bivalent Enhancer	Fetal Thymus	thymus
44	chr11:57242600-57242800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr11:57242600-57243000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:57242600-57243000	Bivalent Enhancer	Fetal Heart	heart
47	chr11:57242600-57243200	Enhancers	Primary T cells from cord blood	blood
48	chr11:57242600-57243200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:57242600-57243400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr11:57242600-57243400	Weak transcription	Lung	lung

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