Variant report

Variant	rs2372351
Chromosome Location	chr3:43278884-43278885
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43278548..43281407-chr3:43281885..43284068,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 3 )

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	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs17075415	0.99[EUR][1000 genomes]
rs17254504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs6796424	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];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	1.00[CEU][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634209	1.00[CEU][hapmap];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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2372351	PTH1R	cis	parietal	SCAN
rs2372351	SNRK	cis	cerebellum	SCAN
rs2372351	SLC25A38	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43278200-43280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:43278400-43280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:43278400-43280200	Weak transcription	NHEK	skin
4	chr3:43278400-43284200	Weak transcription	Thymus	Thymus
5	chr3:43278400-43285000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:43278600-43280800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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