Variant report

Variant	rs4760727
Chromosome Location	chr12:48934113-48934114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11609658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613869	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12424097	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12425518	0.86[EUR][1000 genomes]
rs17123109	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17123138	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760632	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55782635	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs56228147	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs56252733	0.82[AFR][1000 genomes]
rs60874066	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61096762	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73300707	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73300718	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73302549	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74087209	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7967630	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969122	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9788163	0.91[EUR][1000 genomes];0.86[ASN][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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1047600	chr12:48927514-48954225	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1048307	chr12:48927514-48958949	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48932800-48934400	Enhancers	K562	blood
2	chr12:48933000-48934800	Enhancers	Hela-S3	cervix
3	chr12:48933800-48934400	Enhancers	GM12878-XiMat	blood
4	chr12:48933800-48934600	Enhancers	NHEK	skin
5	chr12:48934000-48934400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:48934000-48934400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:48934000-48934600	Enhancers	HMEC	breast

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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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