Variant report

Variant	rs73085705
Chromosome Location	chr12:44345490-44345491
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11182326	0.92[ASN][1000 genomes]
rs11182328	0.93[ASN][1000 genomes]
rs11182332	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182345	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182348	0.81[AMR][1000 genomes]
rs11182353	0.81[AMR][1000 genomes]
rs11182354	0.81[AMR][1000 genomes]
rs11182355	0.81[AMR][1000 genomes]
rs11182359	0.81[AMR][1000 genomes]
rs11829881	0.93[ASN][1000 genomes]
rs12301015	0.93[ASN][1000 genomes]
rs12303804	0.93[ASN][1000 genomes]
rs12309681	0.93[ASN][1000 genomes]
rs12315094	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12318365	0.91[ASN][1000 genomes]
rs12371940	0.81[AMR][1000 genomes]
rs12578394	0.97[ASN][1000 genomes]
rs17093971	0.90[ASN][1000 genomes]
rs4238092	0.93[ASN][1000 genomes]
rs59709721	0.89[ASN][1000 genomes]
rs7308588	0.93[ASN][1000 genomes]
rs73100979	0.81[AMR][1000 genomes]
rs7969641	0.92[ASN][1000 genomes]
rs7976722	0.81[AMR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44324800-44352600	Weak transcription	Left Ventricle	heart
2	chr12:44326600-44347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:44337600-44346000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44340000-44349600	Weak transcription	Fetal Kidney	kidney
6	chr12:44341200-44349200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:44341800-44346200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44342000-44347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:44342200-44347400	Weak transcription	Gastric	stomach
11	chr12:44343400-44347000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:44343400-44347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:44343600-44359400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:44343600-44363400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:44343600-44376800	Weak transcription	Pancreas	Pancrea
16	chr12:44344400-44346000	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr12:44344400-44347200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:44344600-44345800	ZNF genes & repeats	Fetal Stomach	stomach
19	chr12:44344800-44345600	Strong transcription	Aorta	Aorta
20	chr12:44345400-44345800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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