Variant report

Variant	rs9643253
Chromosome Location	chr8:91243692-91243693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90995721..90998156-chr8:91242084..91244807,2	K562	blood:
2	chr8:91093674..91096171-chr8:91242655..91245127,2	K562	blood:
3	chr8:91242047..91244608-chr8:91257106..91259132,2	K562	blood:
4	chr8:91184470..91187262-chr8:91242748..91244864,2	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104327	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10106513	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10111402	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10113268	0.89[ASN][1000 genomes]
rs10956509	0.90[ASN][1000 genomes]
rs10956510	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1155031	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12546672	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679792	0.90[ASN][1000 genomes]
rs2021728	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107073	0.93[ASN][1000 genomes]
rs2189260	0.83[ASN][1000 genomes]
rs2189262	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2189263	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2214418	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28461789	0.90[ASN][1000 genomes]
rs34676253	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4577996	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4961178	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4961179	0.90[ASN][1000 genomes]
rs4961180	0.90[ASN][1000 genomes]
rs4961181	0.90[ASN][1000 genomes]
rs4961182	0.90[ASN][1000 genomes]
rs4961183	0.88[ASN][1000 genomes]
rs4961184	0.90[ASN][1000 genomes]
rs5020366	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010298	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7815299	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815353	0.90[ASN][1000 genomes]
rs7818663	0.82[ASN][1000 genomes]
rs7819285	0.90[ASN][1000 genomes]
rs7823556	0.82[ASN][1000 genomes]
rs7831194	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842059	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297813	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs978070	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs983139	0.93[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	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91240200-91244200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:91240600-91244800	Enhancers	Hela-S3	cervix
3	chr8:91242400-91244000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:91242600-91244200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:91242800-91244000	Flanking Active TSS	K562	blood
6	chr8:91243400-91243800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:91243400-91243800	Enhancers	NHEK	skin
8	chr8:91243400-91244000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:91243400-91244200	Enhancers	HMEC	breast
10	chr8:91243600-91243800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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