Variant report

Variant	rs12579547
Chromosome Location	chr12:48880170-48880171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11168613	1.00[CHB][hapmap]
rs12580814	1.00[CHB][hapmap]
rs12581223	1.00[CHB][hapmap]
rs12582811	1.00[CHB][hapmap]
rs17234937	1.00[CHB][hapmap]
rs35900165	0.81[ASN][1000 genomes]
rs4397895	1.00[CHB][hapmap]
rs4547144	1.00[CHB][hapmap]
rs61941972	0.83[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	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	nsv975415	chr12:48873981-48881500	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:48879800-48880400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:48879800-48880400	Enhancers	NHEK	skin
3	chr12:48879800-48881200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:48880000-48880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:48880000-48880400	Enhancers	Esophagus	oesophagus
6	chr12:48880000-48881200	Enhancers	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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