Variant report

Variant	rs7137439
Chromosome Location	chr12:47289418-47289419
allele	A/C
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:16)

rs_ID	r²[population]
rs10881008	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10881009	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881011	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs10881013	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs11183625	0.86[CHB][hapmap]
rs11183644	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11183661	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12229470	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986584	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4374015	0.86[CHB][hapmap]
rs4405401	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7137808	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7953233	0.85[CHB][hapmap]
rs7963326	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975211	0.84[EUR][1000 genomes]
rs7976518	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47281000-47290800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47285200-47298400	Weak transcription	HSMM	muscle
3	chr12:47285400-47297400	Weak transcription	NHDF-Ad	bronchial
4	chr12:47287600-47289600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:47287600-47298400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:47289000-47290800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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