Variant report

Variant	rs10785482
Chromosome Location	chr12:44342910-44342911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10506232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10748379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10748380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785470	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785471	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785474	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785476	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10785477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785478	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785479	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10880586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880587	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10880588	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880589	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880591	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880604	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182326	0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11182327	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182328	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11182329	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182337	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182341	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182345	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11182346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182358	0.96[ASN][1000 genomes]
rs11829881	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12301015	0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12303804	0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12305959	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309681	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12315094	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12369569	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1881927	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2031056	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3925072	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3925073	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4238092	0.90[EUR][1000 genomes]
rs4238093	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4417371	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4768057	0.97[ASN][1000 genomes]
rs4768544	0.94[EUR][1000 genomes]
rs4768546	1.00[ASN][1000 genomes]
rs5023324	1.00[ASN][1000 genomes]
rs6582490	1.00[ASN][1000 genomes]
rs73100931	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73100935	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73100975	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311847	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7312373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956825	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7957074	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7964465	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7965873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7969641	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7971487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7971516	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7971628	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7974214	0.96[ASN][1000 genomes]
rs7974501	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:21 , 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	chr12:44327400-44343000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:44336000-44343400	Weak transcription	HSMMtube	muscle
6	chr12:44336600-44344600	Weak transcription	Fetal Stomach	stomach
7	chr12:44337000-44344800	Weak transcription	Esophagus	oesophagus
8	chr12:44337600-44346000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44338000-44344400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:44340000-44349600	Weak transcription	Fetal Kidney	kidney
11	chr12:44341200-44343200	Strong transcription	Aorta	Aorta
12	chr12:44341200-44344000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:44341200-44349200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:44341800-44346200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:44342000-44347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:44342000-44367200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:44342200-44347400	Weak transcription	Gastric	stomach
18	chr12:44342400-44343400	Strong transcription	Fetal Intestine Large	intestine
19	chr12:44342400-44344600	Weak transcription	Fetal Muscle Leg	muscle
20	chr12:44342600-44343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:44342600-44344800	Weak transcription	Liver	Liver

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