Variant report

Variant	rs7952764
Chromosome Location	chr12:45246211-45246212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10506258	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs10785535	0.87[JPT][hapmap]
rs10785539	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880696	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880704	0.85[ASN][1000 genomes]
rs11182706	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11615964	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12822444	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1506676	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506679	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs1506680	0.81[ASN][1000 genomes]
rs1876241	0.85[ASN][1000 genomes]
rs2408084	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs2408085	0.83[CHB][hapmap]
rs2465110	0.84[ASN][1000 genomes]
rs2658948	0.83[ASN][1000 genomes]
rs2658954	0.85[ASN][1000 genomes]
rs2939697	0.83[ASN][1000 genomes]
rs2939698	0.82[ASN][1000 genomes]
rs374144	0.88[JPT][hapmap]
rs7295923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304472	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7305124	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7953663	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7963606	0.82[ASN][1000 genomes]
rs7979717	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7952764	DBX2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45240200-45248400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45242200-45247400	Enhancers	Primary T cells from cord blood	blood
3	chr12:45242400-45246800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:45242400-45247400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:45242400-45248000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:45242400-45248600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:45242600-45248400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:45242800-45252200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:45243400-45247200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:45243800-45250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:45243800-45251600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:45244600-45247200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:45245200-45248600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:45245600-45247000	Weak transcription	Fetal Brain Female	brain
15	chr12:45245800-45246400	Weak transcription	Fetal Brain Male	brain
16	chr12:45246000-45246400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:45246000-45246400	Enhancers	NHEK	skin
18	chr12:45246200-45246400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:45246200-45246600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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