Variant report

Variant	rs66507470
Chromosome Location	chr2:127789552-127789553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127788764..127790541-chr2:127863266..127865749,2	K562	blood:

Variant related genes	Relation type
ENSG00000136717	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11888878	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11893989	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11902275	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12465042	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12474412	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12476339	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12477924	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17014784	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17014818	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17014851	0.84[EUR][1000 genomes]
rs17040070	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2071268	0.84[EUR][1000 genomes]
rs2071270	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3768859	0.84[EUR][1000 genomes]
rs3768860	0.84[EUR][1000 genomes]
rs4662703	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55819047	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55999604	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56408880	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60022219	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6745677	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67920725	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72481904	0.84[EUR][1000 genomes]
rs727095	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72846676	0.84[EUR][1000 genomes]
rs7570116	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7573824	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs880436	0.81[AMR][1000 genomes];0.85[EUR][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	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783600-127797000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
3	chr2:127784400-127789600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:127788800-127790000	Weak transcription	HUVEC	blood vessel
5	chr2:127789400-127790400	Enhancers	NHLF	lung
6	chr2:127789400-127790600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:127789400-127790600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:127789400-127790600	Enhancers	NHDF-Ad	bronchial

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