Variant report

Variant	rs11052013
Chromosome Location	chr12:9778704-9778705
allele	G/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	JUN	chr12:9778544-9778727	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU6-700P	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10743789	0.90[ASN][1000 genomes]
rs10771926	0.85[ASN][1000 genomes]
rs10771927	0.87[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs10771929	0.89[ASN][1000 genomes]
rs10771930	0.89[ASN][1000 genomes]
rs10771936	0.85[ASN][1000 genomes]
rs10771947	0.91[ASN][1000 genomes]
rs10844160	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10844161	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs10844191	0.81[ASN][1000 genomes]
rs10844206	0.91[ASN][1000 genomes]
rs10844225	0.91[ASN][1000 genomes]
rs10844233	0.91[ASN][1000 genomes]
rs10844269	0.81[ASN][1000 genomes]
rs11051877	0.85[ASN][1000 genomes]
rs11051879	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs11051959	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052008	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs11052027	0.87[ASN][1000 genomes]
rs11052031	0.89[ASN][1000 genomes]
rs12301481	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12308360	0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12321613	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580472	0.82[ASN][1000 genomes]
rs1529418	0.89[ASN][1000 genomes]
rs1529419	0.87[ASN][1000 genomes]
rs1863876	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1987426	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2401386	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs35721310	0.91[ASN][1000 genomes]
rs4486710	0.94[ASN][1000 genomes]
rs4763675	0.92[ASN][1000 genomes]
rs4763678	0.88[ASN][1000 genomes]
rs4763715	0.84[ASN][1000 genomes]
rs4763716	0.85[ASN][1000 genomes]
rs4763717	0.83[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs5023032	0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs60416399	0.93[ASN][1000 genomes]
rs6488054	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66927586	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132715	0.81[ASN][1000 genomes]
rs7138619	0.87[ASN][1000 genomes]
rs72656628	0.94[ASN][1000 genomes]
rs72656629	0.88[ASN][1000 genomes]
rs7301291	0.94[ASN][1000 genomes]
rs7302021	0.86[ASN][1000 genomes]
rs7310367	0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7311954	0.84[ASN][1000 genomes]
rs7314188	0.89[ASN][1000 genomes]
rs7954289	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9770200-9786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:9770400-9779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
5	chr12:9773000-9779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:9778000-9779600	Weak transcription	Primary T cells from cord blood	blood
7	chr12:9778000-9785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:9778000-9785400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:9778200-9785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:9778200-9785400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr12:9778200-9787400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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