Variant report

Variant	rs947517
Chromosome Location	chr1:220087195-220087196
allele	C/T
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:18)

rs_ID	r²[population]
rs10863510	0.83[ASN][1000 genomes]
rs10863511	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694592	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1694593	0.88[EUR][1000 genomes]
rs1694594	0.88[EUR][1000 genomes]
rs1694595	0.86[EUR][1000 genomes]
rs1776029	0.80[ASN][1000 genomes]
rs1776030	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1776043	0.81[EUR][1000 genomes]
rs1776046	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1776050	0.83[EUR][1000 genomes]
rs1776052	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275707	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378331	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6541115	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6663638	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6663745	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7525274	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1067840	chr1:219990803-220091941	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220077400-220088400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:220077400-220088600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:220081200-220088000	Weak transcription	HepG2	liver
4	chr1:220081200-220088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:220085400-220100000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:220085800-220087600	Enhancers	Fetal Brain Male	brain
7	chr1:220086200-220097400	Genic enhancers	Liver	Liver
8	chr1:220086600-220088200	Weak transcription	K562	blood
9	chr1:220086600-220097400	Weak transcription	Fetal Brain Female	brain
10	chr1:220086800-220088400	Weak transcription	Brain Germinal Matrix	brain
11	chr1:220086800-220089400	Strong transcription	Fetal Intestine Large	intestine
12	chr1:220087000-220087200	Enhancers	Brain Hippocampus Middle	brain
13	chr1:220087000-220088600	Weak transcription	Brain Cingulate Gyrus	brain

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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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