Variant report

Variant	rs11031780
Chromosome Location	chr11:32452945-32452946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr11:32452685-32452973	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF12	chr11:32452489-32453021	H1-hESC	embryonic stem cell:	n/a	chr11:32452878-32452885
3	CTCF	chr11:32452840-32452990	GM12868	blood:	n/a	n/a
4	TEAD4	chr11:32452674-32453018	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr11:32452599-32453034	H1-hESC	embryonic stem cell:	n/a	chr11:32452645-32452657
6	SUZ12	chr11:32447620-32453523	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr11:32452646-32452946	H1-hESC	embryonic stem cell:	n/a	chr11:32452652-32452662
8	CTCF	chr11:32452722-32453005	GM12878	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
9	SP1	chr11:32452625-32452981	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:32452820-32452970	GM12871	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
11	RAD21	chr11:32452539-32453037	H1-hESC	embryonic stem cell:	n/a	chr11:32452645-32452657
12	CTCF	chr11:32452731-32452945	Fibrobl	skin:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
13	CTCF	chr11:32452800-32452950	GM12866	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
14	CTCF	chr11:32452800-32452950	AG09309	skin:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
15	BACH1	chr11:32452728-32452950	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr11:32452658-32452962	HepG2	liver:	n/a	n/a
17	CTBP2	chr11:32451694-32453467	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:32452820-32452970	GM12872	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
19	CTCF	chr11:32452840-32452990	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr11:32452740-32452957	GM12891	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
21	POLR2A	chr11:32452050-32453010	K562	blood:	n/a	n/a
22	CTCF	chr11:32452800-32452950	SAEC	small airway:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
23	CTCF	chr11:32452800-32452950	GM12874	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
24	CTCF	chr11:32452800-32452950	HPF	lung:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
25	CTCF	chr11:32452609-32452987	H1-hESC	embryonic stem cell:	n/a	chr11:32452838-32452851 chr11:32452660-32452673 chr11:32452836-32452852 chr11:32452835-32452853
26	CTCF	chr11:32452820-32452970	AG04450	lung:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
27	CTCF	chr11:32452800-32452950	HA-sp	spinal cord:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
28	CTCF	chr11:32452860-32453010	WERI-Rb-1	eye:	n/a	n/a
29	RAD21	chr11:32452695-32453027	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr11:32452675-32453028	H1-hESC	embryonic stem cell:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
31	RAD21	chr11:32452642-32453009	HepG2	liver:	n/a	chr11:32452645-32452657
32	CTCF	chr11:32452800-32452950	HMEC	breast:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
33	CTCF	chr11:32452800-32452950	GM06990	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
34	CTCF	chr11:32452685-32452966	H1-hESC	embryonic stem cell:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
35	RAD21	chr11:32452719-32452982	HepG2	liver:	n/a	n/a
36	CTCF	chr11:32452709-32452966	GM19238	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
37	CTCF	chr11:32452840-32452990	GM12867	blood:	n/a	n/a
38	CTCF	chr11:32452800-32452950	GM12870	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
39	RAD21	chr11:32452739-32452945	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr11:32452800-32452950	GM12872	blood:	n/a	chr11:32452838-32452851 chr11:32452836-32452852 chr11:32452835-32452853
41	RAD21	chr11:32452558-32453053	H1-hESC	embryonic stem cell:	n/a	chr11:32452645-32452657

Variant related genes	Relation type
WT1	TF binding region
WT1-AS	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11031779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11031781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293603	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1799933	0.93[AFR][1000 genomes]
rs2234582	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4258351	0.86[ASN][1000 genomes]
rs4986811	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5030157	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5030166	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5030172	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72893517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7936152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32448800-32454800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr11:32450200-32457400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:32451200-32453200	Weak transcription	K562	blood
4	chr11:32452000-32453000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:32452000-32453000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:32452000-32453000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr11:32452200-32453000	Bivalent Enhancer	Liver	Liver
8	chr11:32452200-32453200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:32452200-32453200	Active TSS	Right Atrium	heart
10	chr11:32452200-32454400	Active TSS	Fetal Kidney	kidney
11	chr11:32452400-32453000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:32452400-32453000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr11:32452400-32453000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr11:32452400-32453000	Bivalent Enhancer	HMEC	breast
15	chr11:32452600-32453000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:32452600-32453000	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr11:32452600-32453000	Bivalent Enhancer	Placenta	Placenta
18	chr11:32452600-32453000	Bivalent Enhancer	Fetal Thymus	thymus
19	chr11:32452600-32453000	Bivalent Enhancer	Left Ventricle	heart
20	chr11:32452600-32453000	Bivalent Enhancer	Lung	lung
21	chr11:32452600-32453400	Active TSS	Right Ventricle	heart
22	chr11:32452600-32454200	Flanking Active TSS	Ovary	ovary
23	chr11:32452800-32453000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr11:32452800-32453000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:32452800-32453000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr11:32452800-32453000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:32452800-32453200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr11:32452800-32453600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:32452800-32454400	Weak transcription	Pancreas	Pancrea
30	chr11:32452800-32454800	Weak transcription	Gastric	stomach

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