Variant report

Variant	rs17254504
Chromosome Location	chr3:43281598-43281599
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	chr3:43281582..43285022-chr3:43286584..43289819,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1317402	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1320160	0.98[EUR][1000 genomes]
rs1320161	0.98[EUR][1000 genomes]
rs1320162	0.98[EUR][1000 genomes]
rs1320163	0.98[EUR][1000 genomes]
rs17075328	0.95[EUR][1000 genomes]
rs17075415	0.99[EUR][1000 genomes]
rs17254786	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17320570	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17405916	0.87[EUR][1000 genomes]
rs1996497	0.98[EUR][1000 genomes]
rs2372350	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2372360	0.97[EUR][1000 genomes]
rs2372361	0.98[EUR][1000 genomes]
rs4504148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650554	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55836177	0.84[EUR][1000 genomes]
rs55919553	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55988644	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55990908	0.98[EUR][1000 genomes]
rs56032317	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56053383	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56291522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56412846	0.99[EUR][1000 genomes]
rs56745072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57757985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58504881	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60671097	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs60971695	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6766079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767019	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6791341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791526	0.96[EUR][1000 genomes]
rs6796424	0.96[EUR][1000 genomes]
rs6801151	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805108	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808396	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73072908	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072912	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73072920	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73086702	0.95[EUR][1000 genomes]
rs73088703	0.95[EUR][1000 genomes]
rs73088726	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088732	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088748	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73088757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73829200	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7633546	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634209	0.95[EUR][1000 genomes]
rs7641590	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7646966	0.96[EUR][1000 genomes]

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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr3:43278400-43284200	Weak transcription	Thymus	Thymus
2	chr3:43278400-43285000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:43280200-43282000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:43280200-43282000	Enhancers	NHEK	skin
5	chr3:43280800-43281600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:43280800-43282000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:43281000-43282000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:43281200-43282000	Enhancers	Primary T helper cells PMA-I stimulated	--

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