Variant report

Variant	rs17497443
Chromosome Location	chr12:40833551-40833552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs11564104	1.00[AFR][1000 genomes]
rs11564125	1.00[AFR][1000 genomes]
rs11564145	1.00[AFR][1000 genomes]
rs11564164	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11564165	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564170	1.00[AFR][1000 genomes]
rs11564229	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564231	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564249	1.00[AFR][1000 genomes]
rs11564253	1.00[AFR][1000 genomes]
rs11564255	1.00[AFR][1000 genomes]
rs11564258	1.00[AFR][1000 genomes]
rs11564259	1.00[AFR][1000 genomes]
rs11564264	1.00[AFR][1000 genomes]
rs11564266	1.00[AFR][1000 genomes]
rs12422278	1.00[AFR][1000 genomes]
rs12422390	1.00[AFR][1000 genomes]
rs12422527	1.00[AFR][1000 genomes]
rs12423566	1.00[AFR][1000 genomes]
rs12424424	1.00[AFR][1000 genomes]
rs12425677	1.00[AFR][1000 genomes]
rs12425678	1.00[AFR][1000 genomes]
rs12426903	1.00[AFR][1000 genomes]
rs12427207	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1365762	1.00[AFR][1000 genomes]
rs1365768	1.00[AFR][1000 genomes]
rs1373442	1.00[AFR][1000 genomes]
rs17128353	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17128369	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128387	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17128457	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17128472	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17128481	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17128487	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17128490	0.83[ASN][1000 genomes]
rs17444626	1.00[AFR][1000 genomes]
rs17444646	1.00[AFR][1000 genomes]
rs17444667	1.00[AFR][1000 genomes]
rs17444681	1.00[AFR][1000 genomes]
rs17444688	1.00[AFR][1000 genomes]
rs17444702	1.00[AFR][1000 genomes]
rs17444744	1.00[AFR][1000 genomes]
rs17444751	1.00[AFR][1000 genomes]
rs17444765	1.00[AFR][1000 genomes]
rs17466893	1.00[AFR][1000 genomes]
rs17466907	1.00[AFR][1000 genomes]
rs17466969	1.00[AFR][1000 genomes]
rs17467039	1.00[AFR][1000 genomes]
rs17467081	1.00[AFR][1000 genomes]
rs17467095	1.00[AFR][1000 genomes]
rs17467102	1.00[AFR][1000 genomes]
rs17467109	1.00[AFR][1000 genomes]
rs17467137	1.00[AFR][1000 genomes]
rs17467144	1.00[AFR][1000 genomes]
rs17467164	1.00[AFR][1000 genomes]
rs17467263	1.00[AFR][1000 genomes]
rs17467284	1.00[AFR][1000 genomes]
rs17484541	1.00[AFR][1000 genomes]
rs17492152	1.00[AFR][1000 genomes]
rs1844978	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1867435	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1918944	0.83[ASN][1000 genomes]
rs1918945	0.83[ASN][1000 genomes]
rs2017917	1.00[AFR][1000 genomes]
rs2114566	1.00[AFR][1000 genomes]
rs34736038	0.83[ASN][1000 genomes]
rs35462920	1.00[AFR][1000 genomes]
rs35850095	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3789329	1.00[AFR][1000 genomes]
rs3899332	1.00[AFR][1000 genomes]
rs3909731	1.00[AFR][1000 genomes]
rs4767979	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768248	1.00[AFR][1000 genomes]
rs4768249	1.00[AFR][1000 genomes]
rs4768251	1.00[AFR][1000 genomes]
rs4768252	1.00[AFR][1000 genomes]
rs4768253	1.00[AFR][1000 genomes]
rs4768254	1.00[AFR][1000 genomes]
rs4768264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768268	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768283	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768286	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs5015147	1.00[AFR][1000 genomes]
rs5015148	1.00[AFR][1000 genomes]
rs5015149	1.00[AFR][1000 genomes]
rs61736852	1.00[AFR][1000 genomes]
rs7485401	1.00[AFR][1000 genomes]
rs7487209	1.00[AFR][1000 genomes]
rs7487333	1.00[AFR][1000 genomes]
rs7488685	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs7489023	1.00[CHB][hapmap]
rs971616	1.00[AFR][1000 genomes]
rs971617	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1039272	chr12:40817585-40841318	Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40833000-40834600	Enhancers	HMEC	breast
2	chr12:40833400-40834600	Enhancers	NHEK	skin

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