Variant report

Variant	rs4242590
Chromosome Location	chr8:119897215-119897216
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	chr8:119890957..119892807-chr8:119894460..119897666,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10105072	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10808502	0.82[ASN][1000 genomes]
rs11775992	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1908223	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3103983	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3103984	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3103993	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134053	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3134055	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134090	0.82[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3134091	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134096	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3134097	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3890832	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3922789	0.80[ASN][1000 genomes]
rs4242588	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242591	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4339675	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4355804	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372031	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512405	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4512406	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4532625	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56097036	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469774	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469777	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469778	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469779	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469780	0.82[ASN][1000 genomes]
rs7007555	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827202	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv470234	chr8:119856209-119906530	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv891415	chr8:119886923-119921354	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119895000-119897400	Weak transcription	NHDF-Ad	bronchial
2	chr8:119896600-119897600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:119897200-119897400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:119897200-119897800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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