Variant report

Variant	rs481126
Chromosome Location	chr2:31878243-31878244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1090825	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1090828	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12470143	0.92[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap]
rs223621	1.00[ASW][hapmap];0.88[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs223665	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes]
rs2268796	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs2268797	1.00[CHB][hapmap]
rs2300700	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.82[MEX][hapmap]
rs2300702	0.87[CHB][hapmap]
rs2300703	1.00[CHB][hapmap]
rs493162	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4952220	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs564310	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59255043	0.84[ASN][1000 genomes]
rs610758	0.82[ASN][1000 genomes]
rs635304	0.88[ASN][1000 genomes]
rs665237	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs693918	0.87[ASN][1000 genomes]
rs806584	0.87[EUR][1000 genomes];0.85[ASN][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1002988	chr2:31767131-31996924	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3376782	chr2:31861607-32046180	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs481126	RASGRP3	cis	parietal	SCAN
rs481126	NLRC4	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31874200-31879200	Weak transcription	Liver	Liver

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

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