Variant report

Variant	rs9638268
Chromosome Location	chr7:69586950-69586951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10229027	0.83[ASN][1000 genomes]
rs10229155	0.85[ASN][1000 genomes]
rs10234205	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10234614	0.82[ASN][1000 genomes]
rs10234892	0.80[ASN][1000 genomes]
rs10235487	0.87[AMR][1000 genomes]
rs10235781	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10235860	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10244275	0.82[ASN][1000 genomes]
rs10246631	0.83[ASN][1000 genomes]
rs10251306	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10254839	0.82[ASN][1000 genomes]
rs10256062	0.83[ASN][1000 genomes]
rs10256186	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10257549	0.83[EUR][1000 genomes]
rs10268235	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10270616	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10273270	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10277411	0.82[ASN][1000 genomes]
rs10279392	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1035010	0.84[AMR][1000 genomes]
rs1035013	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10452738	0.84[EUR][1000 genomes]
rs10499812	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10950199	0.81[ASN][1000 genomes]
rs11761141	0.84[ASN][1000 genomes]
rs11766329	0.82[ASN][1000 genomes]
rs11767997	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11978431	0.83[EUR][1000 genomes]
rs12669794	0.81[EUR][1000 genomes]
rs12698822	0.82[ASN][1000 genomes]
rs12698830	0.84[EUR][1000 genomes]
rs12698842	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12698843	0.80[EUR][1000 genomes]
rs12698847	0.81[EUR][1000 genomes]
rs12698849	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12698850	0.81[EUR][1000 genomes]
rs12698853	0.81[EUR][1000 genomes]
rs12698855	0.92[AMR][1000 genomes]
rs12698866	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12698877	0.89[ASN][1000 genomes]
rs12698896	0.82[JPT][hapmap]
rs12698899	0.83[ASN][1000 genomes]
rs13228123	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1357759	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1464786	0.83[ASN][1000 genomes]
rs1476104	0.80[EUR][1000 genomes]
rs1476105	0.81[EUR][1000 genomes]
rs1558413	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17365333	0.80[EUR][1000 genomes]
rs17365375	0.80[EUR][1000 genomes]
rs17462837	0.81[EUR][1000 genomes]
rs2159678	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2222544	0.81[ASN][1000 genomes]
rs2280614	0.82[ASN][1000 genomes]
rs2866075	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28770244	0.82[EUR][1000 genomes]
rs34519726	0.81[EUR][1000 genomes]
rs34617709	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35222730	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35317642	0.81[EUR][1000 genomes]
rs6415223	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6460536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6460537	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6943555	0.83[ASN][1000 genomes]
rs6944725	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6949651	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6950485	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6950647	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6951921	0.83[EUR][1000 genomes]
rs6953170	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6957126	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6957740	0.82[ASN][1000 genomes]
rs6958981	0.82[ASN][1000 genomes]
rs6962999	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963904	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6967697	0.82[ASN][1000 genomes]
rs6969375	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6974687	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73442405	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs735060	0.80[EUR][1000 genomes]
rs7780640	0.81[EUR][1000 genomes]
rs7781035	0.91[ASN][1000 genomes]
rs7781401	0.82[ASN][1000 genomes]
rs7781727	0.82[ASN][1000 genomes]
rs7784584	0.85[AMR][1000 genomes]
rs7788024	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7790729	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7790934	0.91[ASN][1000 genomes]
rs7791101	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792964	0.86[ASN][1000 genomes]
rs7794623	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7795152	0.88[EUR][1000 genomes]
rs7797340	0.82[EUR][1000 genomes]
rs7798991	0.82[ASN][1000 genomes]
rs7799308	0.82[ASN][1000 genomes]
rs7805470	0.81[AMR][1000 genomes]
rs7808540	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7809303	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8180850	0.81[ASN][1000 genomes]
rs9638582	0.81[EUR][1000 genomes]
rs9918496	0.83[ASN][1000 genomes]
rs9918544	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	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
9	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
rs9638268	VKORC1L1	cis	parietal	SCAN
rs9638268	AUTS2	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69578800-69591800	Weak transcription	Ovary	ovary
2	chr7:69582000-69597600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:69584600-69587600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:69584600-69587800	Weak transcription	Fetal Stomach	stomach
5	chr7:69585000-69587200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:69585000-69587200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
7	chr7:69585400-69587600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:69585600-69587000	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr7:69585600-69587200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:69585600-69587200	ZNF genes & repeats	Dnd41	blood
11	chr7:69586000-69587000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr7:69586200-69587200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:69586200-69597800	Weak transcription	Left Ventricle	heart
14	chr7:69586600-69587200	Enhancers	Fetal Brain Male	brain

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