Variant report

Variant	rs72686316
Chromosome Location	chr8:120462037-120462038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10955927	0.81[ASN][1000 genomes]
rs11776544	0.81[ASN][1000 genomes]
rs11778491	0.81[ASN][1000 genomes]
rs11781027	0.81[ASN][1000 genomes]
rs11782103	0.81[ASN][1000 genomes]
rs11784242	0.81[ASN][1000 genomes]
rs1381338	0.81[ASN][1000 genomes]
rs1461691	0.81[ASN][1000 genomes]
rs1461693	0.81[ASN][1000 genomes]
rs1461695	0.81[ASN][1000 genomes]
rs1461697	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1461698	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16892491	0.88[EUR][1000 genomes]
rs16892582	0.81[ASN][1000 genomes]
rs16892586	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16892623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16892625	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16892630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16892631	0.83[ASN][1000 genomes]
rs16892633	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16892636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16892639	0.81[ASN][1000 genomes]
rs16892644	0.83[ASN][1000 genomes]
rs16892646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1870779	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2326246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57103042	0.88[EUR][1000 genomes]
rs6982139	0.83[ASN][1000 genomes]
rs6983056	0.81[ASN][1000 genomes]
rs6983393	0.81[ASN][1000 genomes]
rs6990760	0.81[ASN][1000 genomes]
rs6993389	0.81[ASN][1000 genomes]
rs6997943	0.81[ASN][1000 genomes]
rs7012790	0.81[ASN][1000 genomes]
rs7015188	0.81[ASN][1000 genomes]
rs7016011	0.81[ASN][1000 genomes]
rs72686305	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72686306	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs922265	0.83[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats 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	31 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	chr8:120458400-120464400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:120460400-120462400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:120460600-120462800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:120460800-120462400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:120460800-120465200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:120461200-120462400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:120461200-120464800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:120461400-120463200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:120461600-120462200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:120461600-120462200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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