Variant report

Variant	rs12094370
Chromosome Location	chr1:220084159-220084160
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:15)

rs_ID	r²[population]
rs10863513	1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11118455	1.00[CEU][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11118458	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11118462	0.90[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11118463	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12064812	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13374441	0.92[EUR][1000 genomes]
rs17006822	1.00[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1909198	0.84[AMR][1000 genomes]
rs2378330	1.00[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6694002	1.00[CEU][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6694079	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs6694088	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs72740967	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs950455	0.85[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220077400-220086800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:220077400-220088400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:220077400-220088600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:220081200-220088000	Weak transcription	HepG2	liver
5	chr1:220081200-220088600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:220083800-220085400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:220084000-220084200	Enhancers	Liver	Liver
8	chr1:220084000-220084400	Transcr. at gene 5' and 3'	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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