Variant report

Variant	rs2951436
Chromosome Location	chr12:44261618-44261619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1057486	0.97[EUR][1000 genomes]
rs10748373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748378	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10785462	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10785463	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10785466	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10880578	0.87[EUR][1000 genomes]
rs10880585	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11182293	0.92[EUR][1000 genomes]
rs11182324	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11182325	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12298970	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311962	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314126	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358705	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1406787	0.93[EUR][1000 genomes]
rs1609548	0.85[EUR][1000 genomes]
rs1609549	0.85[EUR][1000 genomes]
rs1610291	0.85[EUR][1000 genomes]
rs1614042	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1621279	0.97[EUR][1000 genomes]
rs1622590	0.87[EUR][1000 genomes]
rs1623667	0.85[EUR][1000 genomes]
rs1623829	0.95[EUR][1000 genomes]
rs1675755	0.84[EUR][1000 genomes]
rs1675756	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1675758	0.89[EUR][1000 genomes]
rs1675764	0.87[EUR][1000 genomes]
rs1675765	0.97[EUR][1000 genomes]
rs1675766	0.88[ASN][1000 genomes]
rs1675767	0.95[EUR][1000 genomes]
rs1675769	0.97[EUR][1000 genomes]
rs1675771	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675774	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675776	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1675777	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1675778	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675781	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1675782	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675783	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675785	0.84[EUR][1000 genomes]
rs1675786	1.00[ASN][1000 genomes]
rs1675787	0.87[EUR][1000 genomes]
rs1675788	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675789	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1675790	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1675791	1.00[ASN][1000 genomes]
rs1731422	0.88[ASN][1000 genomes]
rs1731423	0.91[EUR][1000 genomes]
rs1731425	0.80[ASN][1000 genomes]
rs1731430	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1731431	0.89[EUR][1000 genomes]
rs1731432	0.89[EUR][1000 genomes]
rs1731434	0.93[EUR][1000 genomes]
rs1731438	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731439	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1731440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731442	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731448	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1731449	0.88[ASN][1000 genomes]
rs1731452	0.97[EUR][1000 genomes]
rs1731453	0.88[ASN][1000 genomes]
rs1731454	0.97[EUR][1000 genomes]
rs1731456	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1731457	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1731458	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1731459	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2219629	0.90[EUR][1000 genomes]
rs2407783	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2447113	0.89[EUR][1000 genomes]
rs2447114	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2699992	0.88[ASN][1000 genomes]
rs2951435	0.87[EUR][1000 genomes]
rs4238089	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4238091	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4363674	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4469953	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4537822	0.85[EUR][1000 genomes]
rs4572198	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4572199	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4609659	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4768049	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768053	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4768536	0.81[AFR][1000 genomes]
rs4768538	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4768543	0.83[EUR][1000 genomes]
rs5019975	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7295151	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7305609	0.95[EUR][1000 genomes]
rs73096934	0.95[EUR][1000 genomes]
rs73098836	1.00[ASN][1000 genomes]
rs7953229	0.88[ASN][1000 genomes]
rs7955615	0.85[EUR][1000 genomes]
rs7957146	0.94[ASN][1000 genomes]
rs7958314	0.94[ASN][1000 genomes]
rs7965635	0.88[ASN][1000 genomes]
rs7966024	0.94[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44256600-44263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:44256600-44263000	Weak transcription	NHEK	skin
5	chr12:44256800-44263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44258200-44273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:44259200-44263000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44261600-44261800	Enhancers	Duodenum Smooth Muscle	Duodenum

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