Variant report

Variant	rs7295862
Chromosome Location	chr12:57169158-57169159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1026565	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10459246	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10747770	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783796	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10876916	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs10876918	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1107479	1.00[CEU][hapmap]
rs11171914	1.00[CEU][hapmap]
rs11171951	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11171956	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1131514	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12227117	0.94[ASN][1000 genomes]
rs12229457	1.00[CEU][hapmap]
rs12828563	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1466382	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1563896	0.94[CEU][hapmap]
rs1975875	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1979325	0.81[ASN][1000 genomes]
rs2035081	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2035082	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2255074	1.00[CEU][hapmap]
rs2290893	1.00[CEU][hapmap]
rs2290894	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2926741	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2926743	0.81[ASN][1000 genomes]
rs2926747	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2926748	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2950390	1.00[CEU][hapmap]
rs2958123	1.00[CEU][hapmap]
rs2958127	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2958130	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2958132	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2958134	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2958148	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2958154	1.00[CEU][hapmap]
rs2958155	1.00[CEU][hapmap]
rs3214051	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4759254	0.84[CEU][hapmap]
rs4759256	0.88[ASN][1000 genomes]
rs4788	0.80[ASN][1000 genomes]
rs4902	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7313074	0.88[ASN][1000 genomes]
rs7966391	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7967600	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7978685	0.80[ASN][1000 genomes]
rs7980317	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898609	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs898611	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv826382	chr12:57151464-57208607	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57156400-57179400	Weak transcription	Spleen	Spleen
2	chr12:57157800-57171000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:57158600-57179200	Weak transcription	HSMMtube	muscle
4	chr12:57160800-57179400	Weak transcription	Lung	lung
5	chr12:57164800-57179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:57166000-57169400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:57166600-57169200	Genic enhancers	Liver	Liver
8	chr12:57169000-57169800	Enhancers	Primary B cells from cord blood	blood
9	chr12:57169000-57170000	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:57169000-57175600	Weak transcription	Dnd41	blood

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