Variant report

Variant	rs12309681
Chromosome Location	chr12:44343202-44343203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10506232	0.90[EUR][1000 genomes]
rs10748379	0.90[EUR][1000 genomes]
rs10748380	0.90[EUR][1000 genomes]
rs10785470	0.90[EUR][1000 genomes]
rs10785471	0.90[EUR][1000 genomes]
rs10785472	0.90[EUR][1000 genomes]
rs10785473	0.90[EUR][1000 genomes]
rs10785474	0.90[EUR][1000 genomes]
rs10785476	0.83[EUR][1000 genomes]
rs10785477	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10785478	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10785479	0.90[EUR][1000 genomes]
rs10785482	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10880586	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10880588	0.90[EUR][1000 genomes]
rs10880589	0.90[EUR][1000 genomes]
rs10880591	0.90[EUR][1000 genomes]
rs10880597	0.90[EUR][1000 genomes]
rs10880598	0.90[EUR][1000 genomes]
rs10880599	0.88[EUR][1000 genomes]
rs10880600	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10880601	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10880604	0.86[EUR][1000 genomes]
rs10880605	0.86[EUR][1000 genomes]
rs11182326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182327	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11182328	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182329	0.90[EUR][1000 genomes]
rs11182332	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182337	0.90[EUR][1000 genomes]
rs11182339	0.88[EUR][1000 genomes]
rs11182341	0.90[EUR][1000 genomes]
rs11182345	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182346	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11829881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301015	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303804	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305959	0.90[EUR][1000 genomes]
rs12315094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12318365	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12369569	0.90[EUR][1000 genomes]
rs12578394	0.89[ASN][1000 genomes]
rs1675786	0.83[EUR][1000 genomes]
rs17093971	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2031056	0.90[EUR][1000 genomes]
rs3925072	0.88[EUR][1000 genomes]
rs3925073	0.90[EUR][1000 genomes]
rs4238092	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238093	0.90[EUR][1000 genomes]
rs4417371	0.90[EUR][1000 genomes]
rs4768544	0.85[EUR][1000 genomes]
rs59709721	0.97[ASN][1000 genomes]
rs73085705	0.93[ASN][1000 genomes]
rs7308588	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73100931	0.90[EUR][1000 genomes]
rs73100975	0.90[EUR][1000 genomes]
rs7312373	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7956825	0.90[EUR][1000 genomes]
rs7957074	0.90[EUR][1000 genomes]
rs7957146	0.83[EUR][1000 genomes]
rs7958314	0.83[EUR][1000 genomes]
rs7964465	0.90[EUR][1000 genomes]
rs7966024	0.83[EUR][1000 genomes]
rs7969641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7971487	0.90[EUR][1000 genomes]
rs7974501	0.90[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	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:22 , 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	chr12:44336000-44343400	Weak transcription	HSMMtube	muscle
5	chr12:44336600-44344600	Weak transcription	Fetal Stomach	stomach
6	chr12:44337000-44344800	Weak transcription	Esophagus	oesophagus
7	chr12:44337600-44346000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44338000-44344400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:44340000-44349600	Weak transcription	Fetal Kidney	kidney
10	chr12:44341200-44344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:44341200-44349200	Weak transcription	Adipose Nuclei	Adipose
12	chr12:44341800-44346200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:44342000-44347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:44342200-44347400	Weak transcription	Gastric	stomach
16	chr12:44342400-44343400	Strong transcription	Fetal Intestine Large	intestine
17	chr12:44342400-44344600	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:44342600-44343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:44342600-44344800	Weak transcription	Liver	Liver
20	chr12:44343000-44343800	Strong transcription	Fetal Intestine Small	intestine
21	chr12:44343200-44343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:44343200-44343600	ZNF genes & repeats	Aorta	Aorta

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