Variant report

Variant	rs2253736
Chromosome Location	chr12:40533337-40533338
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10878123	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10878208	0.80[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11175256	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11175260	0.86[ASN][1000 genomes]
rs11175332	0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs11175371	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs11175401	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11175405	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs11175422	0.89[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11175540	0.80[ASN][1000 genomes]
rs11175558	0.89[JPT][hapmap]
rs11564115	0.95[JPT][hapmap]
rs12581285	0.83[ASN][1000 genomes]
rs12581617	0.81[ASN][1000 genomes]
rs1388585	0.82[YRI][hapmap]
rs1472117	0.95[JPT][hapmap]
rs1491922	0.84[ASN][1000 genomes]
rs1491923	0.84[ASN][1000 genomes]
rs1491924	0.90[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs1491925	0.87[ASN][1000 genomes]
rs1491942	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs17443199	0.83[JPT][hapmap]
rs17458613	0.84[ASN][1000 genomes]
rs17461429	0.83[ASN][1000 genomes]
rs17518546	0.83[ASN][1000 genomes]
rs2046931	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2131088	0.95[JPT][hapmap]
rs2201144	0.95[JPT][hapmap]
rs2253171	0.82[YRI][hapmap]
rs2638224	0.95[ASN][1000 genomes]
rs2638244	0.86[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2638247	0.87[ASN][1000 genomes]
rs2638250	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2638261	0.82[YRI][hapmap]
rs2638265	0.82[YRI][hapmap]
rs2638268	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2638269	0.91[ASN][1000 genomes]
rs2638270	0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2638271	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2708437	0.95[JPT][hapmap]
rs2708438	0.95[JPT][hapmap]
rs2708461	0.82[YRI][hapmap]
rs2708463	0.91[ASN][1000 genomes]
rs2708465	0.89[ASN][1000 genomes]
rs2708475	0.82[YRI][hapmap]
rs2708478	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2708484	0.82[YRI][hapmap]
rs2723269	0.95[JPT][hapmap]
rs28365179	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs72644819	0.80[ASN][1000 genomes]
rs7310104	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs949640	0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40532400-40535600	Weak transcription	HMEC	breast
2	chr12:40532600-40535600	Weak transcription	NHEK	skin
3	chr12:40532600-40535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:40532800-40535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:40532800-40543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:40533200-40533400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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