Variant report

Variant	rs6975279
Chromosome Location	chr7:69649683-69649684
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10234614	0.84[EUR][1000 genomes]
rs10234844	0.85[ASN][1000 genomes]
rs10234892	0.84[EUR][1000 genomes]
rs10235487	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10235781	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10235860	0.85[AMR][1000 genomes]
rs10237530	0.85[ASN][1000 genomes]
rs10237685	0.85[ASN][1000 genomes]
rs10251306	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10251416	0.85[ASN][1000 genomes]
rs10256186	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10257549	0.82[ASN][1000 genomes]
rs10258298	0.85[ASN][1000 genomes]
rs10258962	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10268235	0.90[ASN][1000 genomes]
rs10268924	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10280622	0.85[ASN][1000 genomes]
rs1035010	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1035013	0.89[ASN][1000 genomes]
rs10452738	0.82[ASN][1000 genomes]
rs10486874	0.84[ASN][1000 genomes]
rs10486875	0.85[ASN][1000 genomes]
rs10499812	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10950199	0.84[EUR][1000 genomes]
rs11767997	0.93[ASN][1000 genomes]
rs11978431	0.82[ASN][1000 genomes]
rs12112638	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12155138	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12374873	0.85[ASN][1000 genomes]
rs12698825	0.84[ASN][1000 genomes]
rs12698830	0.82[ASN][1000 genomes]
rs12698855	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12698857	0.81[JPT][hapmap]
rs12698866	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12698871	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698877	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12698895	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs12698896	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs12698897	0.85[ASN][1000 genomes]
rs13221252	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13226538	0.82[ASN][1000 genomes]
rs13226923	0.85[ASN][1000 genomes]
rs13228123	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1357759	0.88[CEU][hapmap]
rs1404274	0.84[ASN][1000 genomes]
rs1464787	0.86[ASN][1000 genomes]
rs1464788	0.86[ASN][1000 genomes]
rs1474368	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1524518	0.85[ASN][1000 genomes]
rs1880368	0.85[ASN][1000 genomes]
rs2222544	0.84[EUR][1000 genomes]
rs2280613	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2866277	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28770244	0.82[ASN][1000 genomes]
rs35303761	0.85[ASN][1000 genomes]
rs3846984	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6415223	0.90[ASN][1000 genomes]
rs6460536	0.96[ASN][1000 genomes]
rs6460537	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460541	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6460542	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6460543	0.85[ASN][1000 genomes]
rs6651055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949651	0.92[ASN][1000 genomes]
rs6950485	0.93[ASN][1000 genomes]
rs6950647	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951921	0.82[ASN][1000 genomes]
rs6953170	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6954715	0.85[ASN][1000 genomes]
rs6954837	0.85[ASN][1000 genomes]
rs6961164	0.81[ASN][1000 genomes]
rs6961345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6962999	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6967986	0.82[ASN][1000 genomes]
rs6969375	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6976581	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7781035	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7781401	0.83[EUR][1000 genomes]
rs7781727	0.83[EUR][1000 genomes]
rs7784584	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7787612	0.83[EUR][1000 genomes]
rs7788024	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7790729	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790934	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7791101	0.92[ASN][1000 genomes]
rs7792775	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7792964	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7794623	0.88[ASN][1000 genomes]
rs7795152	0.84[ASN][1000 genomes]
rs7796080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797340	0.82[ASN][1000 genomes]
rs7798991	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7799308	0.84[EUR][1000 genomes]
rs7805470	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7808540	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7809303	0.90[ASN][1000 genomes]
rs7809934	0.81[ASN][1000 genomes]
rs8180850	0.84[EUR][1000 genomes]
rs870920	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs873835	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6975279	WBSCR17	cis	cerebellum	SCAN
rs6975279	VKORC1L1	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69643600-69654400	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69648400-69649800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:69648600-69649800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:69648800-69655200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:69649400-69652400	Weak transcription	Fetal Intestine Small	intestine

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