Variant report

Variant	rs13012514
Chromosome Location	chr2:185672183-185672184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185670345..185672598-chr2:185676418..185678861,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10165596	1.00[CHB][hapmap]
rs10167859	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10173509	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10177035	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10184629	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10190062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10201360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs10206265	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10206426	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1038197	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1038198	0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10497661	1.00[CHB][hapmap]
rs11890843	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11892742	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11892843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11899082	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11901640	0.83[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11904676	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12693394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs12693396	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12693397	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12693400	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs13012893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028349	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389241	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs13408744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs13417466	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13424507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366844	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1383309	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1480486	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs1600578	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs16826158	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16826178	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs16826219	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987025	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2199883	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs2369595	0.88[YRI][hapmap]
rs2887514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4278895	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4308093	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs6434100	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6434102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs66983648	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6709436	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6716151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6716235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6718067	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6718759	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6720863	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723680	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6728615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6742299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6747844	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs6749691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7558878	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7564941	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7568655	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7578316	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7582887	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs7583953	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs7584503	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7588753	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7588907	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7605689	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7608386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs9973631	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9973969	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv834484	chr2:185550006-185762728	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185667200-185674000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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