Variant report

Variant	rs1983004
Chromosome Location	chr12:106689731-106689732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10778461	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861571	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112933	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112935	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12370430	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424952	0.81[EUR][1000 genomes]
rs56409465	0.91[EUR][1000 genomes]
rs58956914	0.85[EUR][1000 genomes]
rs7132162	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974338	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980757	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][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	esv1794382	chr12:106679812-106699151	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106680000-106695200	Weak transcription	Right Atrium	heart
2	chr12:106683200-106693000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:106683400-106689800	Weak transcription	Hela-S3	cervix
4	chr12:106683600-106689800	Weak transcription	NHEK	skin
5	chr12:106684400-106691400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:106685400-106690000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:106685600-106689800	Weak transcription	A549	lung
8	chr12:106685800-106689800	Weak transcription	HepG2	liver
9	chr12:106685800-106692800	Weak transcription	Fetal Intestine Large	intestine
10	chr12:106685800-106695200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:106685800-106695200	Weak transcription	Fetal Lung	lung
12	chr12:106687000-106691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:106688400-106693000	Weak transcription	K562	blood
14	chr12:106689000-106695800	Weak transcription	Lung	lung
15	chr12:106689600-106690600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:106689600-106690800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:106689600-106690800	Enhancers	Stomach Mucosa	stomach
18	chr12:106689600-106691800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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