Variant report

Variant	rs55950371
Chromosome Location	chr12:44473635-44473636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10047523	0.84[EUR][1000 genomes]
rs1032886	0.92[EUR][1000 genomes]
rs10506234	0.93[ASN][1000 genomes]
rs10506235	0.80[EUR][1000 genomes]
rs10506236	0.80[EUR][1000 genomes]
rs10506237	0.82[EUR][1000 genomes]
rs10506238	0.87[ASN][1000 genomes]
rs10506239	0.80[EUR][1000 genomes]
rs10880622	0.92[EUR][1000 genomes]
rs10880623	0.92[EUR][1000 genomes]
rs10880628	0.83[EUR][1000 genomes]
rs1115423	0.82[EUR][1000 genomes]
rs11182423	0.92[EUR][1000 genomes]
rs11182430	0.90[EUR][1000 genomes]
rs11182431	0.87[EUR][1000 genomes]
rs11182432	0.87[EUR][1000 genomes]
rs11182453	0.85[EUR][1000 genomes]
rs11182455	0.84[EUR][1000 genomes]
rs1155808	0.87[EUR][1000 genomes]
rs11612946	0.80[EUR][1000 genomes]
rs11613902	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11615473	0.84[EUR][1000 genomes]
rs1168078	0.92[EUR][1000 genomes]
rs11832219	0.84[EUR][1000 genomes]
rs11834667	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11835507	0.84[EUR][1000 genomes]
rs11837611	0.87[ASN][1000 genomes]
rs12099982	0.92[EUR][1000 genomes]
rs12297689	0.85[EUR][1000 genomes]
rs12297754	0.81[EUR][1000 genomes]
rs12297933	0.92[EUR][1000 genomes]
rs12299030	0.84[EUR][1000 genomes]
rs12299937	0.82[EUR][1000 genomes]
rs12300793	0.87[EUR][1000 genomes]
rs12307454	0.92[EUR][1000 genomes]
rs12307560	0.84[EUR][1000 genomes]
rs12308449	0.85[EUR][1000 genomes]
rs12308508	0.89[EUR][1000 genomes]
rs12308569	0.81[EUR][1000 genomes]
rs12309639	0.84[EUR][1000 genomes]
rs12314470	0.82[EUR][1000 genomes]
rs12315961	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12319009	0.92[EUR][1000 genomes]
rs1352935	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1643429	0.87[EUR][1000 genomes]
rs1643431	0.84[EUR][1000 genomes]
rs17094062	0.85[EUR][1000 genomes]
rs17094063	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17094092	0.92[EUR][1000 genomes]
rs17094102	0.87[ASN][1000 genomes]
rs17094110	0.87[ASN][1000 genomes]
rs17094117	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17094119	0.87[ASN][1000 genomes]
rs17094121	0.80[EUR][1000 genomes]
rs17094169	0.84[EUR][1000 genomes]
rs17094183	0.85[EUR][1000 genomes]
rs17094235	0.82[EUR][1000 genomes]
rs17121305	0.85[EUR][1000 genomes]
rs17121310	0.91[EUR][1000 genomes]
rs2032782	0.84[EUR][1000 genomes]
rs2062954	0.92[EUR][1000 genomes]
rs2112147	0.81[EUR][1000 genomes]
rs2174508	0.92[EUR][1000 genomes]
rs2638853	0.94[EUR][1000 genomes]
rs2638855	0.80[EUR][1000 genomes]
rs2657576	0.86[EUR][1000 genomes]
rs28495612	0.87[ASN][1000 genomes]
rs28538835	0.88[EUR][1000 genomes]
rs28838075	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55782485	0.84[EUR][1000 genomes]
rs55977905	0.84[EUR][1000 genomes]
rs56134810	0.84[EUR][1000 genomes]
rs56218625	0.80[EUR][1000 genomes]
rs57010132	0.85[EUR][1000 genomes]
rs57907832	0.82[EUR][1000 genomes]
rs58206004	0.85[EUR][1000 genomes]
rs59152420	0.87[EUR][1000 genomes]
rs59375742	0.85[EUR][1000 genomes]
rs59477802	0.85[EUR][1000 genomes]
rs59628873	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60008417	0.83[EUR][1000 genomes]
rs60995491	0.85[EUR][1000 genomes]
rs61399923	0.87[ASN][1000 genomes]
rs61629163	0.82[EUR][1000 genomes]
rs61690882	0.82[EUR][1000 genomes]
rs6582497	0.89[EUR][1000 genomes]
rs6582498	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66970043	0.92[EUR][1000 genomes]
rs67184817	0.81[EUR][1000 genomes]
rs67713366	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs68049983	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7137469	0.84[EUR][1000 genomes]
rs7139362	0.80[EUR][1000 genomes]
rs7295832	0.81[EUR][1000 genomes]
rs7297563	0.85[EUR][1000 genomes]
rs7298835	0.87[ASN][1000 genomes]
rs7305976	0.85[EUR][1000 genomes]
rs7306647	0.85[EUR][1000 genomes]
rs73093458	0.80[EUR][1000 genomes]
rs73093474	0.85[EUR][1000 genomes]
rs73094803	0.85[EUR][1000 genomes]
rs73100825	0.82[EUR][1000 genomes]
rs73100834	0.83[EUR][1000 genomes]
rs7312930	0.87[EUR][1000 genomes]
rs7313269	0.81[EUR][1000 genomes]
rs7315208	0.87[EUR][1000 genomes]
rs7316737	0.81[EUR][1000 genomes]
rs73288050	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73288052	0.87[ASN][1000 genomes]
rs7953173	0.93[ASN][1000 genomes]
rs7961974	0.82[EUR][1000 genomes]
rs7967957	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7968777	0.84[EUR][1000 genomes]
rs7969885	0.92[EUR][1000 genomes]
rs7971340	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976652	0.84[EUR][1000 genomes]
rs7977482	0.92[EUR][1000 genomes]
rs7980383	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs860867	0.80[EUR][1000 genomes]
rs963095	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522314	chr12:44471709-44487061	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44458400-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44467600-44482600	Weak transcription	Left Ventricle	heart
3	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44471200-44482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:44471400-44482400	Weak transcription	Aorta	Aorta
6	chr12:44472400-44474400	Weak transcription	Pancreas	Pancrea
7	chr12:44473600-44473800	ZNF genes & repeats	Fetal Intestine Small	intestine

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