Variant report

Variant	rs10830962
Chromosome Location	chr11:92698427-92698428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10466351	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765575	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10830961	1.00[CEU][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10830963	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11020116	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11020123	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1985254	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2121649	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2166704	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2166706	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3847554	0.87[MEX][hapmap]
rs4331050	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7933855	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7941837	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7945617	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7948632	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7948640	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044571	chr11:92495213-92742314	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv555903	chr11:92640787-92877533	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv555904	chr11:92640787-92881933	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:4)

Disease	PMID	Source
Glycemic traits	23575436	GWAS catalog
Metabolite levels	21909109	GWAS catalog
Diabetes (gestational)	22233651	GWAS catalog
Metabolic syndrome	22399527	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10830962	KIAA1731	cis	cerebellum	SCAN
rs10830962	PIWIL4	cis	cerebellum	SCAN
rs10830962	C11orf75	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92698000-92702600	Weak transcription	Gastric	stomach

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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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