Variant report

Variant	rs7975604
Chromosome Location	chr12:47290149-47290150
allele	C/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:13)

rs_ID	r²[population]
rs11183642	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11183655	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367351	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372169	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097368	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2408635	1.00[ASN][1000 genomes]
rs4262792	0.91[MEX][hapmap]
rs4575360	0.93[EUR][1000 genomes]
rs57646407	0.82[EUR][1000 genomes]
rs57760966	0.82[EUR][1000 genomes]
rs73283973	0.82[EUR][1000 genomes]
rs7958193	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963571	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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:10 , 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	chr12:47287600-47298400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:47289000-47290800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:47289600-47290400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:47289600-47290400	Enhancers	HMEC	breast
8	chr12:47289600-47290400	Enhancers	NHEK	skin
9	chr12:47289600-47290800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:47289600-47292600	Enhancers	Breast Myoepithelial Primary Cells	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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