Variant report

Variant	rs7486169
Chromosome Location	chr12:74732024-74732025
allele	A/G
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:16)

rs_ID	r²[population]
rs10785106	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879747	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10879766	0.91[JPT][hapmap]
rs11180024	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11180030	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180042	0.89[AMR][1000 genomes]
rs1346247	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365538	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1554486	0.84[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.97[MKK][hapmap]
rs58864603	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61935071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935075	0.89[AMR][1000 genomes]
rs7135636	0.89[AMR][1000 genomes]
rs7484963	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7486135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971189	0.84[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899291	chr12:74666737-74740958	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1051702	chr12:74674733-74732069	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv523765	chr12:74680999-74749476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74729000-74732800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:74731200-74733800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:74731400-74732200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:74731400-74732200	Enhancers	HMEC	breast
5	chr12:74731400-74732400	Enhancers	NHEK	skin
6	chr12:74731400-74732600	Enhancers	HUVEC	blood vessel
7	chr12:74731400-74733400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:74731400-74733800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:74731600-74732200	Flanking Active TSS	A549	lung
10	chr12:74731600-74733600	Enhancers	NHDF-Ad	bronchial
11	chr12:74731600-74733600	Enhancers	Osteobl	bone
12	chr12:74732000-74733000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:74732000-74733400	Weak transcription	HSMM	muscle

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