Variant report

Variant	rs2619147
Chromosome Location	chr3:142645055-142645056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142638416..142640786-chr3:142642641..142645400,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1036691	0.83[EUR][1000 genomes]
rs1457684	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs1457685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463559	0.83[EUR][1000 genomes]
rs2581619	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes]
rs2581620	0.82[CEU][hapmap];0.94[CHB][hapmap];0.83[EUR][1000 genomes]
rs2581626	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2581629	0.83[EUR][1000 genomes]
rs2581635	0.82[EUR][1000 genomes]
rs2581636	0.82[CEU][hapmap]
rs2581637	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2608070	0.82[CEU][hapmap];0.80[CHB][hapmap]
rs2608075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2608078	0.83[EUR][1000 genomes]
rs2608079	0.83[EUR][1000 genomes]
rs2707973	0.82[CEU][hapmap];0.81[CHB][hapmap];0.88[MEX][hapmap];0.81[EUR][1000 genomes]
rs2707975	0.82[CEU][hapmap];0.81[CHB][hapmap];0.83[MEX][hapmap];0.81[EUR][1000 genomes]
rs2707977	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2707983	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs2707991	0.83[EUR][1000 genomes]
rs2707996	0.83[EUR][1000 genomes]
rs2707997	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4683435	0.83[EUR][1000 genomes]
rs6778732	0.81[EUR][1000 genomes]
rs893885	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9824548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs984593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs984594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142643600-142645400	Enhancers	NHEK	skin
2	chr3:142643600-142647200	Enhancers	HepG2	liver
3	chr3:142644800-142645400	Enhancers	Liver	Liver

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