Variant report

Variant	rs1731457
Chromosome Location	chr12:44286499-44286500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10506231	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1057486	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736017	0.94[ASN][1000 genomes]
rs10748373	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10748378	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785463	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785466	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785468	0.87[EUR][1000 genomes]
rs10785469	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10880573	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10880578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880585	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182273	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs11182275	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182280	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182290	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs11182293	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182324	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298970	0.83[EUR][1000 genomes]
rs12311962	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12314126	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1358705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609548	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1610291	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1614042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623667	0.82[ASN][1000 genomes]
rs1623829	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1675755	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs1675756	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675758	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675765	0.94[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675767	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675769	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675771	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1675772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1675774	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1675776	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1675777	0.85[AFR][1000 genomes]
rs1675778	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1675781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675782	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1675783	0.85[EUR][1000 genomes]
rs1675784	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1675785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675788	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1675789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675790	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731427	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1731429	0.98[ASN][1000 genomes]
rs1731430	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731431	0.85[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731438	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1731439	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1731440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1731442	1.00[CEU][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes]
rs1731447	0.91[ASN][1000 genomes]
rs1731448	1.00[CEU][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes]
rs1731452	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219629	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407783	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447114	0.85[EUR][1000 genomes]
rs2447115	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2447116	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2614394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2951435	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951436	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3764004	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4238089	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238090	0.94[ASN][1000 genomes]
rs4238091	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4354753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4363674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4469953	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4537822	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572198	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572199	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4609659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768049	0.84[EUR][1000 genomes]
rs4768052	0.87[ASN][1000 genomes]
rs4768053	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768535	0.81[AFR][1000 genomes]
rs4768536	0.88[AFR][1000 genomes]
rs4768538	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768543	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5019975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582484	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs7295151	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305609	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096934	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965240	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7965330	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7972025	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44278600-44287400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:44279200-44292600	Weak transcription	Left Ventricle	heart
4	chr12:44279200-44297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44281800-44287600	Weak transcription	Psoas Muscle	Psoas
6	chr12:44282800-44289800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:44285600-44287000	Enhancers	HSMMtube	muscle
8	chr12:44286000-44286600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:44286000-44286800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:44286000-44287000	Enhancers	Pancreas	Pancrea
11	chr12:44286000-44287400	Weak transcription	Osteobl	bone
12	chr12:44286000-44287600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:44286200-44287600	Weak transcription	HMEC	breast
14	chr12:44286200-44289200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:44286400-44286800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:44286400-44287400	Weak transcription	Hela-S3	cervix
17	chr12:44286400-44287600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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