Variant report

Variant	rs2442014
Chromosome Location	chr8:99803796-99803797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10447977	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10955189	0.86[AMR][1000 genomes]
rs10955190	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11774463	0.85[AMR][1000 genomes]
rs11778767	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11780292	0.83[AMR][1000 genomes]
rs11780369	0.83[AMR][1000 genomes]
rs11780500	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12114834	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12541317	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12547297	0.87[AMR][1000 genomes]
rs12549803	0.83[AMR][1000 genomes]
rs12679734	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680195	0.87[AMR][1000 genomes]
rs12680602	0.80[AMR][1000 genomes]
rs13269932	0.89[AMR][1000 genomes]
rs13275915	0.91[AMR][1000 genomes]
rs13279438	0.91[AMR][1000 genomes]
rs1447245	0.80[AMR][1000 genomes]
rs1476181	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1961744	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2028975	0.83[EUR][1000 genomes]
rs2442010	0.94[EUR][1000 genomes]
rs2442011	0.86[EUR][1000 genomes]
rs2442012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442013	0.84[EUR][1000 genomes]
rs2442015	0.90[EUR][1000 genomes]
rs2515214	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515215	0.94[EUR][1000 genomes]
rs2515216	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2515219	0.96[EUR][1000 genomes]
rs2515221	0.83[EUR][1000 genomes]
rs2515224	0.92[EUR][1000 genomes]
rs2922066	0.80[AMR][1000 genomes]
rs2922073	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922074	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2922075	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2922076	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2922078	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2922081	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2922082	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2922084	0.80[AMR][1000 genomes]
rs3019290	0.86[AMR][1000 genomes]
rs3019291	0.86[AMR][1000 genomes]
rs3019293	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34281206	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34366206	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34477118	0.83[AMR][1000 genomes]
rs34855977	0.90[AMR][1000 genomes]
rs35536167	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35798019	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35804297	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35915594	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4131873	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4255105	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4279561	0.91[AMR][1000 genomes]
rs4292660	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4304299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413739	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440607	0.91[AMR][1000 genomes]
rs4517094	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4541872	0.86[AMR][1000 genomes]
rs4549741	0.91[AMR][1000 genomes]
rs4562286	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612309	0.88[AMR][1000 genomes]
rs4734410	0.87[AMR][1000 genomes]
rs4734417	0.83[AMR][1000 genomes]
rs4735570	0.85[AMR][1000 genomes]
rs4735571	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4735574	0.90[AMR][1000 genomes]
rs57034072	0.87[AMR][1000 genomes]
rs58321500	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62532565	0.87[AMR][1000 genomes]
rs62532577	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62532587	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62535408	0.82[AMR][1000 genomes]
rs62535410	0.85[AMR][1000 genomes]
rs62535412	0.87[AMR][1000 genomes]
rs6468643	0.80[ASN][1000 genomes]
rs7827435	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7838239	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7845271	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv981968	chr8:99794499-99809509	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99797600-99809200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:99797600-99809200	Weak transcription	Pancreas	Pancrea
3	chr8:99797800-99806000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:99797800-99809200	Weak transcription	Ovary	ovary
5	chr8:99798000-99804400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:99798400-99808400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:99799200-99808200	Weak transcription	NHEK	skin
8	chr8:99799400-99808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99803000-99807600	Weak transcription	K562	blood

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