Variant report

Variant	rs7309705
Chromosome Location	chr12:47332422-47332423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11183659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099637	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312374	1.00[ASN][1000 genomes]
rs2715771	0.97[ASN][1000 genomes]
rs4768766	1.00[ASN][1000 genomes]
rs7305185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74082948	0.82[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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47331600-47332600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47331600-47332600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:47331600-47332800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:47331600-47333000	Enhancers	HepG2	liver
5	chr12:47331800-47332600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:47332000-47332600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:47332200-47332800	Enhancers	Liver	Liver
8	chr12:47332400-47332800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:47332400-47332800	Enhancers	NHEK	skin
10	chr12:47332400-47335400	Weak transcription	HSMM	muscle
11	chr12:47332400-47335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:47332400-47335600	Weak transcription	HMEC	breast
13	chr12:47332400-47335800	Weak transcription	Osteobl	bone
14	chr12:47332400-47336200	Weak transcription	NH-A	brain
15	chr12:47332400-47337600	Weak transcription	A549	lung

Quick Search:

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

what's new

Quick links