Variant report

Variant	rs730586
Chromosome Location	chr3:19388599-19388600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11706405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11709636	0.83[JPT][hapmap]
rs11713099	0.89[ASW][hapmap];1.00[CEU][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs12637672	0.90[ASN][1000 genomes]
rs12638161	0.91[JPT][hapmap];0.82[YRI][hapmap];0.98[AFR][1000 genomes]
rs12714976	0.90[ASN][1000 genomes]
rs17005833	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs17005834	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62279481	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62279486	1.00[AFR][1000 genomes]
rs62279488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7618649	1.00[CEU][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7630441	0.89[AFR][1000 genomes]
rs7645179	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9682622	0.93[ASN][1000 genomes]

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	nsv517847	chr3:18845347-19483695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv948636	chr3:19335802-19856585	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19378400-19392400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:19382800-19391600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:19386600-19388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:19386800-19389600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:19387600-19389200	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:19387800-19388600	Enhancers	Brain Angular Gyrus	brain
7	chr3:19388000-19388600	Enhancers	Primary B cells from cord blood	blood
8	chr3:19388000-19388600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:19388000-19388800	Enhancers	Brain Anterior Caudate	brain
10	chr3:19388000-19389600	Enhancers	Fetal Lung	lung
11	chr3:19388200-19388600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:19388200-19388600	Enhancers	Brain Hippocampus Middle	brain
13	chr3:19388200-19388800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:19388200-19390800	Enhancers	Primary hematopoietic stem cells	blood
15	chr3:19388400-19388600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:19388400-19389600	Flanking Active TSS	GM12878-XiMat	blood
17	chr3:19388400-19390600	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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