Variant report

Variant	rs12630207
Chromosome Location	chr3:142954574-142954575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12633505	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6791707	0.85[CHB][hapmap];0.89[EUR][1000 genomes]
rs6792269	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7627815	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv818171	chr3:142894411-142960273	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1009573	chr3:142896048-142959777	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2757014	chr3:142905661-142964373	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142939400-142955000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:142941600-142956400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:142944000-142955200	Weak transcription	Fetal Lung	lung
4	chr3:142948000-142955200	Weak transcription	Fetal Thymus	thymus
5	chr3:142949800-142956000	Weak transcription	Thymus	Thymus
6	chr3:142950200-142955000	Weak transcription	GM12878-XiMat	blood
7	chr3:142951800-142955400	Weak transcription	K562	blood
8	chr3:142953200-142957600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:142953800-142957600	Weak transcription	HSMM	muscle
10	chr3:142954000-142954600	Enhancers	HSMMtube	muscle
11	chr3:142954000-142958400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:142954200-142955000	Weak transcription	Dnd41	blood
13	chr3:142954200-142955400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:142954400-142954800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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

what's new

Quick links