Variant report

Variant	rs2066494
Chromosome Location	chr11:67165015-67165016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67164910-67165169	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:67163972-67167371	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67164788-67165690	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:67164821-67167639	HepG2	liver:	n/a	n/a
5	PML	chr11:67164818-67165312	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:67164812-67165963	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67164224-67166136	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:67164498-67165299	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:67163695-67165813	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:67164715-67167476	PFSK-1	brain:	n/a	n/a
11	STAT5A	chr11:67164350-67165337	GM12878	blood:	n/a	chr11:67164478-67164485 chr11:67164525-67164532
12	POLR2A	chr11:67164525-67167300	K562	blood:	n/a	n/a
13	POLR2A	chr11:67162849-67167326	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:67164864-67165552	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:67164777-67167449	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:67164776-67166908	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr11:67162831-67167316	K562	blood:	n/a	n/a
18	POLR2A	chr11:67164695-67167286	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr11:67164786-67167247	MCF-7	breast:	n/a	n/a
20	POLR2A	chr11:67164786-67165800	K562	blood:	n/a	n/a
21	POLR2A	chr11:67163677-67167294	GM12892	blood:	n/a	n/a
22	POLR2A	chr11:67162599-67167265	PFSK-1	brain:	n/a	n/a
23	PML	chr11:67164745-67165074	K562	blood:	n/a	n/a
24	POLR2A	chr11:67163149-67167243	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:67165000-67166230	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr11:67164817-67165506	HCT-116	colon:	n/a	n/a
27	POLR2A	chr11:67163917-67166568	K562	blood:	n/a	n/a
28	POLR2A	chr11:67164736-67167236	U87	brain:	n/a	n/a
29	POLR2A	chr11:67162873-67167363	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:67164742-67165191	U87	brain:	n/a	n/a
31	POLR2A	chr11:67162822-67167423	K562	blood:	n/a	n/a
32	SIN3AK20	chr11:67164983-67165347	K562	blood:	n/a	n/a
33	PML	chr11:67164721-67165335	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67164733-67165330	GM12891	blood:	n/a	n/a
35	POLR2A	chr11:67163762-67167367	K562	blood:	n/a	n/a
36	POLR2A	chr11:67164933-67165611	A549	lung:	n/a	n/a
37	POLR2A	chr11:67163626-67167320	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:67163693-67165862	GM12891	blood:	n/a	n/a
39	POLR2A	chr11:67164528-67165280	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:67164803-67165430	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:67163577-67167470	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:67164906-67166302	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:67162931-67167248	GM12878	blood:	n/a	n/a
44	HEY1	chr11:67164828-67165041	K562	blood:	n/a	n/a
45	MTA3	chr11:67163641-67165543	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:67164788-67165825	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:67162854-67167503	K562	blood:	n/a	n/a
48	POLR2A	chr11:67163544-67165831	GM12892	blood:	n/a	n/a
49	ZMIZ1	chr11:67165015-67165208	K562	blood:	n/a	n/a
50	POLR2A	chr11:67164874-67167097	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67163742..67165862-chr11:67248927..67251919,3	K562	blood:
2	chr11:67032184..67035001-chr11:67164126..67166360,2	K562	blood:
3	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
4	chr11:67164510..67166276-chr11:67272097..67273964,2	K562	blood:
5	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
6	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
7	chr11:67032184..67035938-chr11:67163286..67166360,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-1238P	TF binding region
ENSG00000173020	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12279818	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12284337	1.00[CHB][hapmap]
rs12417116	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12417429	1.00[EUR][1000 genomes]
rs12417770	0.86[ASN][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420556	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs12420763	1.00[JPT][hapmap]
rs12421018	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573536	0.86[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs17148183	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880138	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17884022	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871033	1.00[EUR][1000 genomes]
rs1871044	1.00[EUR][1000 genomes]
rs28364240	1.00[EUR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.85[AFR][1000 genomes]
rs4084238	0.82[AFR][1000 genomes]
rs4382915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567468	0.86[ASN][1000 genomes]
rs4930198	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930415	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs4930432	1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930435	1.00[EUR][1000 genomes]
rs61731786	0.86[ASN][1000 genomes]
rs61758493	0.85[AFR][1000 genomes]
rs61759803	0.85[AFR][1000 genomes]
rs61759806	0.85[AFR][1000 genomes]
rs7396248	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes]
rs8191439	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs868167	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes]
rs887315	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs887316	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887318	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67160200-67166200	Weak transcription	Fetal Kidney	kidney
2	chr11:67160200-67167000	Weak transcription	Psoas Muscle	Psoas
3	chr11:67160400-67165200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:67160400-67165200	Weak transcription	HSMMtube	muscle
5	chr11:67160400-67165200	Weak transcription	NH-A	brain
6	chr11:67160400-67165400	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:67160400-67166600	Strong transcription	Brain Cingulate Gyrus	brain
8	chr11:67160400-67166800	Strong transcription	A549	lung
9	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
10	chr11:67160600-67166800	Weak transcription	Fetal Brain Male	brain
11	chr11:67160800-67167000	Strong transcription	Fetal Intestine Large	intestine
12	chr11:67160800-67167200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:67160800-67167200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:67161000-67166400	Strong transcription	Lung	lung
15	chr11:67161000-67166800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:67161000-67167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:67161000-67167600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:67161200-67166000	Strong transcription	Esophagus	oesophagus
19	chr11:67161200-67167000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:67161200-67168000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:67161400-67167000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:67161400-67167800	Strong transcription	NHEK	skin
23	chr11:67161400-67168000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:67161600-67167800	Strong transcription	Brain Substantia Nigra	brain
25	chr11:67161800-67166400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:67161800-67166800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:67162600-67166400	Strong transcription	Liver	Liver
28	chr11:67162600-67166400	Strong transcription	Gastric	stomach
29	chr11:67162600-67166600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:67162600-67166800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr11:67162600-67167000	Strong transcription	Brain Anterior Caudate	brain
32	chr11:67162800-67165200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:67162800-67166400	Strong transcription	Brain Germinal Matrix	brain
34	chr11:67162800-67166800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:67162800-67166800	Strong transcription	Fetal Brain Female	brain
36	chr11:67162800-67166800	Genic enhancers	Dnd41	blood
37	chr11:67162800-67166800	Strong transcription	NHLF	lung
38	chr11:67162800-67167200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:67162800-67167400	Strong transcription	Osteobl	bone
40	chr11:67162800-67167800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr11:67162800-67168000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:67163000-67165400	Strong transcription	Brain Hippocampus Middle	brain
43	chr11:67163000-67166400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:67163000-67166600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:67163000-67166600	Strong transcription	Colonic Mucosa	Colon
46	chr11:67163000-67166800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:67163000-67167200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:67163000-67167800	Genic enhancers	Fetal Thymus	thymus
49	chr11:67163000-67168000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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