Variant report

Variant	rs12402604
Chromosome Location	chr1:95513465-95513466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10747462	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874900	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874901	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165285	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165290	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165291	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11165292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11165296	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11165301	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12022525	0.98[EUR][1000 genomes]
rs12036045	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12060761	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12082888	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12120694	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12408845	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17100482	0.86[EUR][1000 genomes]
rs17112867	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4427415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57001838	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7526765	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7539517	0.91[EUR][1000 genomes]
rs7540080	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7551774	0.91[AMR][1000 genomes];0.92[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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3402740	chr1:95500980-95527860	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
2	chr1:95489400-95517200	Weak transcription	Aorta	Aorta
3	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
5	chr1:95506000-95517000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
7	chr1:95506600-95527800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:95508000-95513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:95509000-95514000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:95509000-95528000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:95509200-95525600	Weak transcription	Adipose Nuclei	Adipose
12	chr1:95509400-95515800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:95509400-95527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:95509400-95532800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:95509400-95534200	Weak transcription	Fetal Intestine Small	intestine
16	chr1:95509600-95513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:95509600-95513600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:95509600-95513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:95509600-95513800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:95509600-95526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:95510000-95513800	Weak transcription	Liver	Liver
22	chr1:95511200-95514000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links