Variant report

Variant	rs2708460
Chromosome Location	chr12:40536689-40536690
allele	A/G
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:90)

rs_ID	r²[population]
rs10506144	0.93[EUR][1000 genomes]
rs10506147	0.86[EUR][1000 genomes]
rs11174697	0.86[EUR][1000 genomes]
rs11175186	0.93[EUR][1000 genomes]
rs11175593	0.86[EUR][1000 genomes]
rs11564107	0.86[EUR][1000 genomes]
rs11564117	0.93[ASN][1000 genomes]
rs11564152	0.81[EUR][1000 genomes]
rs11564153	0.86[EUR][1000 genomes]
rs11564185	0.81[EUR][1000 genomes]
rs11564187	0.86[EUR][1000 genomes]
rs11564199	0.86[EUR][1000 genomes]
rs11564209	0.81[EUR][1000 genomes]
rs11564210	0.86[EUR][1000 genomes]
rs11564212	0.86[EUR][1000 genomes]
rs11564214	0.93[ASN][1000 genomes]
rs11564216	0.93[EUR][1000 genomes]
rs11564271	0.81[EUR][1000 genomes]
rs12422544	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12422796	0.81[EUR][1000 genomes]
rs12424040	0.93[EUR][1000 genomes]
rs12425561	0.93[ASN][1000 genomes]
rs12426378	0.93[EUR][1000 genomes]
rs12426643	0.93[ASN][1000 genomes]
rs12427245	0.81[EUR][1000 genomes]
rs1388585	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1388597	0.86[EUR][1000 genomes]
rs1463717	0.81[EUR][1000 genomes]
rs17442924	1.00[EUR][1000 genomes]
rs17443078	1.00[EUR][1000 genomes]
rs17443178	0.93[EUR][1000 genomes]
rs17443185	1.00[EUR][1000 genomes]
rs17443206	1.00[EUR][1000 genomes]
rs17443600	0.81[EUR][1000 genomes]
rs17443656	0.81[EUR][1000 genomes]
rs17443909	0.86[EUR][1000 genomes]
rs17444028	0.81[EUR][1000 genomes]
rs17444054	0.81[EUR][1000 genomes]
rs17458549	0.93[EUR][1000 genomes]
rs17458808	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17461387	0.93[ASN][1000 genomes]
rs17461575	0.86[EUR][1000 genomes]
rs17461664	0.81[EUR][1000 genomes]
rs17465610	0.86[EUR][1000 genomes]
rs17465946	0.86[EUR][1000 genomes]
rs17466016	0.81[EUR][1000 genomes]
rs17483919	0.93[ASN][1000 genomes]
rs17484003	0.93[EUR][1000 genomes]
rs17484342	0.81[EUR][1000 genomes]
rs2244534	0.86[AFR][1000 genomes]
rs2253021	1.00[AFR][1000 genomes]
rs2253171	1.00[AFR][1000 genomes]
rs2253867	1.00[AFR][1000 genomes]
rs2638223	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638235	0.86[AFR][1000 genomes]
rs2638236	0.86[AFR][1000 genomes]
rs2638237	0.86[AFR][1000 genomes]
rs2638240	0.86[AFR][1000 genomes]
rs2638241	0.86[AFR][1000 genomes]
rs2638243	0.86[AFR][1000 genomes]
rs2638261	0.86[AFR][1000 genomes]
rs2638265	0.86[AFR][1000 genomes]
rs2708403	0.86[AFR][1000 genomes]
rs2708405	0.86[AFR][1000 genomes]
rs2708406	0.86[AFR][1000 genomes]
rs2708410	0.86[AFR][1000 genomes]
rs2708415	0.86[AFR][1000 genomes]
rs2708461	1.00[AFR][1000 genomes]
rs2708462	0.86[AFR][1000 genomes]
rs2708471	0.86[AFR][1000 genomes]
rs2708475	0.86[AFR][1000 genomes]
rs2708483	0.86[AFR][1000 genomes]
rs28365169	0.93[EUR][1000 genomes]
rs28365173	0.93[EUR][1000 genomes]
rs28365689	0.93[EUR][1000 genomes]
rs28370649	0.93[EUR][1000 genomes]
rs28370650	0.93[EUR][1000 genomes]
rs28370664	0.81[EUR][1000 genomes]
rs28370682	0.86[EUR][1000 genomes]
rs28370830	0.86[EUR][1000 genomes]
rs36212067	0.81[EUR][1000 genomes]
rs36220738	0.81[EUR][1000 genomes]
rs4628750	0.81[EUR][1000 genomes]
rs4767962	0.93[ASN][1000 genomes]
rs4767965	0.86[EUR][1000 genomes]
rs4768213	0.93[EUR][1000 genomes]
rs4768226	0.81[EUR][1000 genomes]
rs4768228	0.81[EUR][1000 genomes]
rs72547977	0.86[EUR][1000 genomes]
rs729215	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv519063	chr12:40536061-40538858	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40532800-40543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40535000-40537200	Enhancers	Hela-S3	cervix

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