Variant report

Variant	rs7793372
Chromosome Location	chr7:14547449-14547450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10231750	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs10235540	0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[TSI][hapmap]
rs10244094	0.92[CEU][hapmap];0.90[JPT][hapmap]
rs10245171	0.90[JPT][hapmap]
rs10245903	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs10247453	0.80[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs10256038	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10263131	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10270441	0.92[CEU][hapmap]
rs1030578	0.95[JPT][hapmap]
rs10499441	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs11762226	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs11767890	0.82[CEU][hapmap]
rs11768166	0.84[EUR][1000 genomes]
rs11771951	0.85[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs11982590	0.85[CEU][hapmap];0.94[JPT][hapmap]
rs12154477	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs12670458	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs12699618	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs12699619	0.84[CEU][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap]
rs12699621	0.85[CEU][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs12699623	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12699624	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs12699625	0.86[JPT][hapmap]
rs12699627	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12699628	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12699629	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs12699635	0.81[CEU][hapmap]
rs12699636	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs12699637	0.92[CEU][hapmap]
rs12699641	0.82[CEU][hapmap]
rs13238777	0.80[EUR][1000 genomes]
rs13243691	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs13438642	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1367780	0.88[CEU][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs1367781	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1367783	0.90[JPT][hapmap]
rs1431520	0.81[CEU][hapmap];0.85[CHB][hapmap];0.82[TSI][hapmap]
rs1431525	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[TSI][hapmap]
rs1431526	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs1431527	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1431532	0.84[CEU][hapmap]
rs1431538	0.80[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap]
rs1541874	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs1978671	0.81[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs2116314	0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs2116315	0.95[JPT][hapmap]
rs2116319	0.88[CEU][hapmap]
rs2884348	0.84[CEU][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs4607508	0.87[EUR][1000 genomes]
rs4719405	0.80[EUR][1000 genomes]
rs4719406	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4719407	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4719409	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs4721335	0.83[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs4721336	0.80[EUR][1000 genomes]
rs4721337	0.80[EUR][1000 genomes]
rs4721338	0.84[CEU][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap]
rs4721342	0.80[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap]
rs6461102	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs6943928	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs6958691	0.81[CEU][hapmap]
rs7777868	0.87[EUR][1000 genomes]
rs7782805	0.88[CEU][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes]
rs7783911	0.85[EUR][1000 genomes]
rs7794554	0.85[EUR][1000 genomes]
rs9690425	0.84[CEU][hapmap];0.81[JPT][hapmap]

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	nsv949033	chr7:14086106-14860323	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv915603	chr7:14443884-14624268	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1848567	chr7:14464118-14579801	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv887707	chr7:14471682-14576163	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv887708	chr7:14494508-14617982	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1800100	chr7:14511454-14564068	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv606282	chr7:14542836-14579801	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7793372	TMEM195	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14544600-14548400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:14546200-14548400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:14546800-14548200	Enhancers	Fetal Heart	heart
4	chr7:14547200-14547600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:14547200-14547600	Enhancers	Fetal Brain Male	brain
6	chr7:14547200-14547600	Enhancers	Left Ventricle	heart
7	chr7:14547200-14547800	Enhancers	Liver	Liver
8	chr7:14547200-14547800	Enhancers	NHEK	skin
9	chr7:14547200-14548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:14547200-14548000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:14547200-14548200	Enhancers	HMEC	breast
12	chr7:14547200-14548800	Enhancers	Muscle Satellite Cultured Cells	--

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