Variant report

Variant	rs10212419
Chromosome Location	chr3:139004920-139004921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12695694	0.82[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6802174	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9853827	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9866054	1.00[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591856	chr3:139000844-139037832	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1005158	chr3:139001736-139073011	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3463545	chr3:139003623-139005477	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3463546	chr3:139003744-139005340	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv11564	chr3:139003829-139005364	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10212419	GK5	cis	parietal	SCAN
rs10212419	SPSB4	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138999000-139006800	Weak transcription	Pancreas	Pancrea
2	chr3:139000800-139011200	Weak transcription	NHLF	lung
3	chr3:139001600-139005000	Weak transcription	Left Ventricle	heart
4	chr3:139002000-139011600	Weak transcription	HSMM	muscle
5	chr3:139002400-139006600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:139003200-139007000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:139003600-139009200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:139004400-139005400	Genic enhancers	NHDF-Ad	bronchial
9	chr3:139004400-139007200	Enhancers	K562	blood
10	chr3:139004400-139008200	Enhancers	Ovary	ovary
11	chr3:139004600-139005400	Enhancers	Placenta	Placenta
12	chr3:139004600-139008000	Enhancers	Right Ventricle	heart
13	chr3:139004800-139005000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:139004800-139006600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

Quick Search:

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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