Variant report

Variant	rs11182341
Chromosome Location	chr12:44339216-44339217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10506232	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748379	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10748380	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785470	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785471	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785472	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785473	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785474	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785476	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10785477	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785478	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785479	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10785481	0.93[ASN][1000 genomes]
rs10785482	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880586	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880587	0.91[ASN][1000 genomes]
rs10880588	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880589	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880591	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880598	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880599	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880600	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880601	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880604	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880605	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182326	0.90[EUR][1000 genomes]
rs11182327	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182328	0.90[EUR][1000 genomes]
rs11182329	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182337	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11182339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182345	0.86[EUR][1000 genomes]
rs11182346	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182358	0.91[ASN][1000 genomes]
rs11829881	0.90[EUR][1000 genomes]
rs12301015	0.90[EUR][1000 genomes]
rs12303804	0.90[EUR][1000 genomes]
rs12305959	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12309681	0.90[EUR][1000 genomes]
rs12315094	0.86[EUR][1000 genomes]
rs12369569	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1881926	0.91[ASN][1000 genomes]
rs1881927	0.91[ASN][1000 genomes]
rs2031056	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3925072	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3925073	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4238092	0.90[EUR][1000 genomes]
rs4238093	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4417371	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768055	0.91[ASN][1000 genomes]
rs4768057	0.91[ASN][1000 genomes]
rs4768544	0.94[EUR][1000 genomes]
rs4768546	0.95[ASN][1000 genomes]
rs5023324	0.95[ASN][1000 genomes]
rs6582490	0.95[ASN][1000 genomes]
rs73100931	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73100935	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73100975	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7311847	0.91[ASN][1000 genomes]
rs7312373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956825	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7957074	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7964465	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7965873	0.95[ASN][1000 genomes]
rs7969641	0.90[EUR][1000 genomes]
rs7971487	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7971628	0.95[ASN][1000 genomes]
rs7974214	0.91[ASN][1000 genomes]
rs7974501	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44324800-44352600	Weak transcription	Left Ventricle	heart
2	chr12:44325000-44340800	Weak transcription	Aorta	Aorta
3	chr12:44325000-44341800	Weak transcription	Ovary	ovary
4	chr12:44325200-44342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44326600-44347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:44327400-44343000	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44331800-44341800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:44333000-44341600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:44336000-44343400	Weak transcription	HSMMtube	muscle
11	chr12:44336400-44341200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:44336400-44341200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:44336600-44344600	Weak transcription	Fetal Stomach	stomach
14	chr12:44337000-44341600	Weak transcription	Liver	Liver
15	chr12:44337000-44344800	Weak transcription	Esophagus	oesophagus
16	chr12:44337600-44346000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:44337800-44342200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:44338000-44344400	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links