Variant report

Variant	rs10280931
Chromosome Location	chr7:146692561-146692562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10232060	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs10251794	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.97[TSI][hapmap]
rs10268606	0.95[CEU][hapmap]
rs10270807	0.81[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.97[TSI][hapmap]
rs10272986	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274942	0.95[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap]
rs10276778	0.85[AFR][1000 genomes]
rs12670868	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs12703874	0.95[CEU][hapmap];0.85[TSI][hapmap]
rs12703875	0.90[CEU][hapmap];0.83[TSI][hapmap]
rs13233877	0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap]
rs13234249	0.95[CEU][hapmap];0.83[TSI][hapmap]
rs1524345	0.89[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs1916941	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2372806	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4726814	0.88[CEU][hapmap];0.87[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	nsv1027561	chr7:146308783-146762872	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv465191	chr7:146406379-146759900	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv608941	chr7:146406379-146759900	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv522917	chr7:146446767-146694441	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv534580	chr7:146451347-146730531	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021251	chr7:146522341-146802125	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv497792	chr7:146526101-146734852	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv531442	chr7:146669919-146755110	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10280931	ATP6V0E2	cis	parietal	SCAN
rs10280931	OR9A2	cis	cerebellum	SCAN
rs10280931	FAM115A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146692400-146692600	Enhancers	Brain Germinal Matrix	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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