Variant report

Variant	rs594527
Chromosome Location	chr1:93463001-93463002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93302592..93305369-chr1:93461704..93463424,2	K562	blood:
2	chr1:93459371..93463416-chr1:93464297..93466371,4	K562	blood:

Variant related genes	Relation type
ENSG00000251795	Chromatin interaction
ENSG00000206680	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1011663	0.93[ASN][1000 genomes]
rs10747454	0.82[ASN][1000 genomes]
rs11164850	0.82[ASN][1000 genomes]
rs11164851	0.82[ASN][1000 genomes]
rs11164854	0.88[ASN][1000 genomes]
rs11164855	0.91[EUR][1000 genomes]
rs12049007	0.93[ASN][1000 genomes]
rs12120036	0.93[ASN][1000 genomes]
rs12130044	0.93[ASN][1000 genomes]
rs12144226	0.84[ASN][1000 genomes]
rs1678784	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2086314	0.93[ASN][1000 genomes]
rs2127398	0.93[ASN][1000 genomes]
rs2127400	0.93[ASN][1000 genomes]
rs28561471	0.82[ASN][1000 genomes]
rs3943283	0.93[ASN][1000 genomes]
rs4515797	0.84[ASN][1000 genomes]
rs4847226	0.92[ASN][1000 genomes]
rs4847389	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs514235	0.88[ASN][1000 genomes]
rs521428	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs534409	0.84[ASN][1000 genomes]
rs567613	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579800	0.97[EUR][1000 genomes]
rs606344	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs619784	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641462	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs655026	0.95[EUR][1000 genomes]
rs660870	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663112	0.91[ASN][1000 genomes]
rs6671078	0.86[ASN][1000 genomes]
rs6671268	0.88[ASN][1000 genomes]
rs7517539	0.84[ASN][1000 genomes]
rs7524934	0.91[ASN][1000 genomes]
rs753391	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs770883	0.91[ASN][1000 genomes]
rs770884	0.85[ASN][1000 genomes]
rs945630	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93451800-93466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:93459800-93466000	Weak transcription	Brain Anterior Caudate	brain
3	chr1:93459800-93466000	Weak transcription	GM12878-XiMat	blood
4	chr1:93461800-93463200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:93461800-93466000	Weak transcription	Pancreas	Pancrea
6	chr1:93462000-93463800	Weak transcription	Fetal Intestine Large	intestine
7	chr1:93462200-93465200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:93462200-93465800	Weak transcription	Stomach Mucosa	stomach
9	chr1:93462800-93466000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:93463000-93463200	Enhancers	Brain Cingulate Gyrus	brain

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