Variant report

Variant	rs10493591
Chromosome Location	chr1:76796785-76796786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10493590	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11162123	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11585239	0.83[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12145584	0.83[AFR][1000 genomes]
rs12145585	0.82[AFR][1000 genomes]
rs17098734	0.83[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17098736	0.83[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17098793	0.92[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17672606	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4408196	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7516680	0.92[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs752819	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539896	0.92[CEU][hapmap];0.82[GIH][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76780200-76813800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76780600-76817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76783600-76802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76794800-76797000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:76796400-76796800	Enhancers	Brain Substantia Nigra	brain
6	chr1:76796400-76797200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:76796400-76797200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr1:76796400-76797200	Enhancers	Fetal Heart	heart
9	chr1:76796400-76797400	Enhancers	Fetal Stomach	stomach
10	chr1:76796600-76796800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:76796600-76796800	Enhancers	Brain Angular Gyrus	brain
12	chr1:76796600-76797000	Enhancers	Brain Hippocampus Middle	brain
13	chr1:76796600-76797200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:76796600-76797200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:76796600-76797200	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:76796600-76797200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:76796600-76797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:76796600-76797400	Enhancers	Brain Anterior Caudate	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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