Variant report

Variant	rs17483919
Chromosome Location	chr12:40555574-40555575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10506143	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506144	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10506146	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10506147	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11175186	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11175593	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11564107	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11564108	1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11564117	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11564131	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11564187	1.00[JPT][hapmap]
rs11564190	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11564199	0.85[AMR][1000 genomes]
rs11564210	1.00[JPT][hapmap]
rs11564212	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564214	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11564216	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11564218	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12422544	1.00[CHB][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12423419	1.00[EUR][1000 genomes]
rs12423551	1.00[EUR][1000 genomes]
rs12424040	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12424294	1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12425561	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425630	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12426378	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12426643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427022	1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1388585	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1388597	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1491945	0.90[AMR][1000 genomes]
rs17442143	1.00[CEU][hapmap]
rs17443882	1.00[CEU][hapmap]
rs17458549	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17458808	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17461387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461575	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17461692	1.00[EUR][1000 genomes]
rs17465610	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17484003	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17484141	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2131081	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2638223	0.93[ASN][1000 genomes]
rs2708460	0.93[ASN][1000 genomes]
rs28365169	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28365173	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28365206	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28365229	1.00[JPT][hapmap]
rs28365671	1.00[CEU][hapmap]
rs28365689	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28370602	1.00[AFR][1000 genomes]
rs28370606	1.00[AFR][1000 genomes]
rs28370664	0.81[AMR][1000 genomes]
rs28370682	0.81[AMR][1000 genomes]
rs28370746	1.00[CEU][hapmap]
rs28370830	0.81[AMR][1000 genomes]
rs28740171	1.00[AFR][1000 genomes]
rs34567498	1.00[EUR][1000 genomes]
rs4767961	0.81[AMR][1000 genomes]
rs4767962	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767964	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767965	0.80[AMR][1000 genomes]
rs4768213	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768226	1.00[JPT][hapmap]
rs535458	1.00[AFR][1000 genomes]
rs545385	1.00[AFR][1000 genomes]
rs549790	1.00[AFR][1000 genomes]
rs729215	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv437743	chr12:40554659-40556860	ZNF genes & repeats Weak transcription	TF binding region	1 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	chr12:40547200-40558600	Weak transcription	Liver	Liver
2	chr12:40552000-40556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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