Variant report

Variant	rs12063043
Chromosome Location	chr1:222085166-222085167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10863667	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11118894	0.93[EUR][1000 genomes]
rs12070325	0.93[EUR][1000 genomes]
rs12075056	0.93[EUR][1000 genomes]
rs12075091	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12077427	0.83[EUR][1000 genomes]
rs12077507	0.82[EUR][1000 genomes]
rs12079354	0.93[EUR][1000 genomes]
rs12083868	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2378494	0.95[EUR][1000 genomes]
rs2889913	0.94[EUR][1000 genomes]
rs4546928	0.97[EUR][1000 genomes]
rs4846358	0.94[EUR][1000 genomes]
rs4846736	0.94[EUR][1000 genomes]
rs60779273	0.94[EUR][1000 genomes]
rs6604688	0.94[EUR][1000 genomes]
rs6604689	0.84[EUR][1000 genomes]
rs73118732	0.94[EUR][1000 genomes]
rs73118745	0.93[EUR][1000 genomes]
rs7517200	0.92[EUR][1000 genomes]
rs7527906	0.83[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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222071200-222085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:222075200-222097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222079200-222085200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:222081200-222085600	Weak transcription	Osteobl	bone
5	chr1:222081200-222097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:222082600-222085600	Weak transcription	HSMM	muscle
7	chr1:222083200-222092600	Weak transcription	HSMMtube	muscle
8	chr1:222083600-222092400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:222084400-222085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:222084600-222085800	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:222084600-222086000	Enhancers	GM12878-XiMat	blood
12	chr1:222084800-222087200	Weak transcription	Esophagus	oesophagus
13	chr1:222085000-222085800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:222085000-222086200	Enhancers	HMEC	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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