Variant report

Variant	rs11836064
Chromosome Location	chr12:42330219-42330220
allele	C/T
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	CTCF	chr12:42330215-42330468	GM12878	blood:	n/a	chr12:42330328-42330346 chr12:42330380-42330393 chr12:42330330-42330343
2	CTCF	chr12:42330160-42330430	NHEK	skin:	n/a	chr12:42330328-42330346 chr12:42330380-42330393 chr12:42330330-42330343
3	CTCF	chr12:42330180-42330330	GM12864	blood:	n/a	n/a
4	CTCF	chr12:42330140-42330290	HCT-116	colon:	n/a	n/a
5	CTCF	chr12:42330200-42330350	HVMF	connective:	n/a	chr12:42330328-42330346 chr12:42330330-42330343
6	CTCF	chr12:42330180-42330330	GM12866	blood:	n/a	n/a
7	CTCF	chr12:42330135-42330458	H1-hESC	embryonic stem cell:	n/a	chr12:42330328-42330346 chr12:42330380-42330393 chr12:42330330-42330343
8	CTCF	chr12:42330180-42330330	NHDF-neo	bronchial:	n/a	n/a
9	RAD21	chr12:42330187-42330528	H1-hESC	embryonic stem cell:	n/a	chr12:42330377-42330391 chr12:42330326-42330345
10	CTCF	chr12:42330200-42330350	BE2_C	brain:	n/a	chr12:42330328-42330346 chr12:42330330-42330343
11	SETDB1	chr12:42330161-42330390	U2OS	brain:	n/a	n/a
12	CTCF	chr12:42330180-42330330	MCF-7	breast:	n/a	n/a
13	RAD21	chr12:42330085-42330555	H1-hESC	embryonic stem cell:	n/a	chr12:42330377-42330391 chr12:42330326-42330345
14	USF2	chr12:42330075-42330368	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:42330150-42330500	H1-hESC	embryonic stem cell:	n/a	chr12:42330328-42330346 chr12:42330380-42330393 chr12:42330330-42330343
16	CTCF	chr12:42330200-42330350	HRE	kidney:	n/a	chr12:42330328-42330346 chr12:42330330-42330343
17	CTCF	chr12:42330140-42330290	BE2_C	brain:	n/a	n/a
18	RAD21	chr12:42330204-42330493	H1-hESC	embryonic stem cell:	n/a	chr12:42330377-42330391 chr12:42330326-42330345
19	CTCF	chr12:42330180-42330330	GM12874	blood:	n/a	n/a
20	CTCF	chr12:42330200-42330350	GM12872	blood:	n/a	chr12:42330328-42330346 chr12:42330330-42330343
21	CTCF	chr12:42330120-42330270	HCT-116	colon:	n/a	n/a
22	ZNF143	chr12:42330160-42330445	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000257239	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1009721	1.00[EUR][1000 genomes]
rs11118	1.00[EUR][1000 genomes]
rs1157577	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1233989	1.00[EUR][1000 genomes]
rs1233991	1.00[EUR][1000 genomes]
rs1233993	1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[EUR][1000 genomes]
rs1234041	1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1238283	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[EUR][1000 genomes]
rs1683199	1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17090752	1.00[EUR][1000 genomes]
rs1920698	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58627781	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs73270611	1.00[EUR][1000 genomes]
rs73274214	1.00[EUR][1000 genomes]
rs73274218	1.00[EUR][1000 genomes]
rs73274236	1.00[EUR][1000 genomes]
rs73274275	1.00[EUR][1000 genomes]
rs73274301	1.00[EUR][1000 genomes]
rs73276306	1.00[EUR][1000 genomes]
rs73276346	1.00[EUR][1000 genomes]
rs73276375	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276381	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276390	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73276399	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278206	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278217	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278227	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824698	1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	1.00[EUR][1000 genomes]
rs824720	1.00[EUR][1000 genomes]
rs824721	1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42326800-42333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:42328000-42336000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:42329400-42331600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:42330000-42330400	Enhancers	Aorta	Aorta

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