Variant report

Variant	rs7301226
Chromosome Location	chr12:40563537-40563538
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10454013	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs10506141	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10877929	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10878029	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs11174735	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11174918	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs11174998	0.88[ASN][1000 genomes]
rs11175021	0.88[ASN][1000 genomes]
rs11175027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11175090	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs11175094	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11175106	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11175409	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175456	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175935	1.00[YRI][hapmap]
rs11564157	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564215	0.86[EUR][1000 genomes]
rs11564279	0.91[JPT][hapmap]
rs12228213	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12230685	0.92[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1542594	0.91[JPT][hapmap]
rs1871895	0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs2101144	0.87[ASN][1000 genomes]
rs2128276	0.91[JPT][hapmap]
rs2200085	0.92[JPT][hapmap]
rs2242367	0.91[JPT][hapmap]
rs2708445	0.90[ASN][1000 genomes]
rs28370645	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs28370647	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs28370666	0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs4533099	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61933163	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7135815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7302006	0.92[CHB][hapmap]
rs7953143	0.85[CHB][hapmap];0.82[JPT][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7966132	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966741	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7967369	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7967822	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs7973688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975693	0.92[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	esv3398206	chr12:40556364-40581392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40557400-40564600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40562800-40564400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:40562800-40565600	Enhancers	GM12878-XiMat	blood
4	chr12:40563000-40564400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:40563000-40564400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:40563200-40564600	Weak transcription	Primary B cells from cord blood	blood

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