Variant report

Variant	rs1256053
Chromosome Location	chr14:64716955-64716956
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64716532..64719050-chr14:64719291..64721027,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11158526	1.00[CEU][hapmap]
rs11158529	1.00[CEU][hapmap]
rs1152580	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1152585	0.84[CHB][hapmap];0.92[EUR][1000 genomes]
rs1152596	1.00[CEU][hapmap]
rs1152602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs11628107	1.00[CEU][hapmap]
rs11629158	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs12432035	1.00[CEU][hapmap]
rs12435492	1.00[CEU][hapmap]
rs1256027	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes]
rs1256032	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1256034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1256049	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1256055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1256060	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1256066	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1256104	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1256105	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1256114	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs1256119	0.89[EUR][1000 genomes]
rs1256122	0.82[EUR][1000 genomes]
rs2357482	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs2776606	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4899135	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs4902278	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs7144437	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs8015278	0.95[JPT][hapmap]
rs941697	0.82[EUR][1000 genomes]
rs944050	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs944052	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs944459	0.94[CHB][hapmap]
rs944460	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs944461	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs953592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64713000-64723800	Weak transcription	Thymus	Thymus
2	chr14:64715400-64717600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:64715600-64718600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:64716000-64718000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64716200-64722000	Weak transcription	Fetal Lung	lung
6	chr14:64716400-64717200	Weak transcription	Ovary	ovary
7	chr14:64716400-64733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:64716600-64718000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:64716800-64717600	Enhancers	Brain Germinal Matrix	brain

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