Variant report

Variant	rs2050390
Chromosome Location	chr6:114354771-114354772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12661982	0.85[EUR][1000 genomes]
rs12662029	0.87[EUR][1000 genomes]
rs13197935	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13210690	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1334901	0.89[CEU][hapmap];0.80[GIH][hapmap];0.87[EUR][1000 genomes]
rs1334902	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs17075821	0.89[CEU][hapmap];0.80[GIH][hapmap];0.87[EUR][1000 genomes]
rs17075832	0.87[EUR][1000 genomes]
rs17075854	0.87[EUR][1000 genomes]
rs6568828	0.87[EUR][1000 genomes]
rs6904640	0.87[EUR][1000 genomes]
rs6926298	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs7739113	0.88[EUR][1000 genomes]
rs7739597	0.80[CHD][hapmap]
rs7740376	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7744242	0.88[EUR][1000 genomes]
rs7772231	0.89[CEU][hapmap]

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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1024062	chr6:114311029-114679557	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2050390	WISP3	cis	cerebellum	SCAN
rs2050390	FAM162B	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114346400-114360800	Weak transcription	HSMM	muscle
2	chr6:114351400-114365200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:114352200-114355400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:114353000-114363400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:114353400-114360200	Weak transcription	HSMMtube	muscle
6	chr6:114353400-114360800	Weak transcription	Aorta	Aorta
7	chr6:114354400-114355400	Enhancers	NHEK	skin

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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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