Variant report

Variant	rs11942837
Chromosome Location	chr4:77014343-77014344
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs4379080	1.00[EUR][1000 genomes]
rs4524416	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62318913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6826514	0.98[EUR][1000 genomes]
rs6828078	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6849653	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72655511	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72655512	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72655515	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7662679	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7683914	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7699287	0.80[EUR][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77008600-77016800	Weak transcription	Psoas Muscle	Psoas
2	chr4:77012400-77015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:77012400-77015600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:77012600-77014400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:77012600-77016200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:77012600-77016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:77012800-77016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:77012800-77016800	Weak transcription	HMEC	breast
9	chr4:77014200-77014400	Enhancers	Pancreas	Pancrea

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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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