Variant report

Variant	rs2922074
Chromosome Location	chr8:99851715-99851716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99850378..99851897-chr8:99870067..99872904,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10447977	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10755897	0.80[AMR][1000 genomes]
rs10955190	0.81[AMR][1000 genomes]
rs11774463	0.82[CHB][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes]
rs11778767	0.91[CHB][hapmap];0.84[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes]
rs11780292	0.83[AMR][1000 genomes]
rs11780369	0.83[AMR][1000 genomes]
rs11780500	0.91[CHB][hapmap];0.85[CHD][hapmap];0.83[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes]
rs12114834	0.95[CHB][hapmap];0.98[CHD][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12541317	0.90[CHB][hapmap]
rs12547297	0.82[CHB][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes]
rs12547849	0.83[GIH][hapmap]
rs12549803	0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs12679734	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12680195	0.86[CHB][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes]
rs13269932	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs13275915	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs1447245	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1476181	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1961744	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028975	0.96[EUR][1000 genomes]
rs2442011	0.93[EUR][1000 genomes]
rs2442012	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2442013	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2442014	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2515214	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515216	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs2515219	0.84[EUR][1000 genomes]
rs2515221	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2515224	0.82[EUR][1000 genomes]
rs2515225	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2922066	0.89[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2922068	0.81[JPT][hapmap]
rs2922073	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2922075	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2922078	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922081	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2922082	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2922084	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3019290	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019291	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3019293	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34281206	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34366206	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34855977	0.80[AMR][1000 genomes]
rs35536167	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35798019	0.91[CHB][hapmap];0.83[CHD][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs35804297	0.81[AMR][1000 genomes]
rs35915594	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4131873	0.95[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes]
rs4255105	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4279561	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs4292660	0.85[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs4304299	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4413739	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4549741	0.95[MEX][hapmap];0.85[TSI][hapmap]
rs4562286	0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4734410	0.95[MEX][hapmap];0.90[TSI][hapmap]
rs4734417	0.82[ASN][1000 genomes]
rs4735570	0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs4735574	0.95[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes]
rs57034072	0.88[AMR][1000 genomes]
rs62532577	0.86[AMR][1000 genomes]
rs62532587	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62535408	0.82[AMR][1000 genomes]
rs62535410	0.85[AMR][1000 genomes]
rs62535412	0.88[AMR][1000 genomes]
rs6988087	0.84[TSI][hapmap]
rs7818828	0.83[MEX][hapmap];0.81[TSI][hapmap]
rs7827435	0.91[JPT][hapmap]
rs7838239	0.91[CHB][hapmap];0.81[AMR][1000 genomes]
rs7845271	0.82[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]

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	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2922074	OSR2	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99838800-99862800	Weak transcription	Ovary	ovary
2	chr8:99847200-99857200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:99847800-99855000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:99849400-99853000	Weak transcription	NHEK	skin
5	chr8:99849600-99856800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:99849800-99855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:99850200-99857000	Weak transcription	Placenta	Placenta

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