Variant report

Variant	rs66866430
Chromosome Location	chr1:150500085-150500086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11205374	0.81[EUR][1000 genomes]
rs11205386	0.87[EUR][1000 genomes]
rs11810419	0.87[ASN][1000 genomes]
rs12119320	0.81[EUR][1000 genomes]
rs12129037	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12131376	0.96[EUR][1000 genomes]
rs12132918	1.00[EUR][1000 genomes]
rs12134634	0.96[EUR][1000 genomes]
rs1980062	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34848955	0.94[EUR][1000 genomes]
rs58419446	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs58585637	0.89[ASN][1000 genomes]
rs66464034	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657478	0.89[ASN][1000 genomes]
rs72700804	0.94[EUR][1000 genomes]
rs72700806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700810	0.96[EUR][1000 genomes]
rs73019054	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150489000-150505400	Weak transcription	Right Ventricle	heart
2	chr1:150489200-150501800	Weak transcription	Right Atrium	heart
3	chr1:150489400-150500200	Weak transcription	Osteobl	bone
4	chr1:150489400-150500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:150489600-150501600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:150490600-150500400	Weak transcription	Stomach Mucosa	stomach
7	chr1:150494400-150500400	Weak transcription	HSMMtube	muscle
8	chr1:150495200-150501600	Weak transcription	Psoas Muscle	Psoas
9	chr1:150496800-150500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:150498400-150501400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:150499800-150502800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:150500000-150502600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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