Variant report

Variant	rs36702
Chromosome Location	chr5:127552723-127552724
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs152906	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs181850	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs185177	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs251213	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs251214	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs251216	0.83[EUR][1000 genomes]
rs251387	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs251389	0.82[EUR][1000 genomes]
rs251390	0.81[EUR][1000 genomes]
rs251391	0.82[EUR][1000 genomes]
rs2546147	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2617621	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36693	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36694	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36697	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36698	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36700	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36712	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36714	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36715	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs40527	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs42916	0.95[EUR][1000 genomes];0.81[ASN][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	nsv830482	chr5:127475398-127665377	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36702	CTC-228N24.3	cis	Skin Sun Exposed Lower leg	GTEx
rs36702	LOC644869	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127548400-127552800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:127549000-127552800	Weak transcription	Esophagus	oesophagus
3	chr5:127549800-127553000	Weak transcription	Fetal Stomach	stomach
4	chr5:127551400-127553800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:127552000-127553400	Enhancers	Fetal Lung	lung
6	chr5:127552000-127553600	Enhancers	Osteobl	bone
7	chr5:127552000-127554000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:127552200-127553400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:127552200-127553400	Enhancers	Left Ventricle	heart
10	chr5:127552200-127553600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:127552200-127553600	Enhancers	NH-A	brain
12	chr5:127552400-127553200	Enhancers	HSMMtube	muscle
13	chr5:127552400-127553400	Enhancers	HSMM	muscle
14	chr5:127552400-127553400	Enhancers	NHDF-Ad	bronchial
15	chr5:127552400-127553600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:127552400-127553800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:127552400-127554000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr5:127552600-127553200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:127552600-127553200	Enhancers	Brain Substantia Nigra	brain
20	chr5:127552600-127553400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:127552600-127553400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:127552600-127553400	Enhancers	Fetal Muscle Leg	muscle
23	chr5:127552600-127553400	Enhancers	HMEC	breast
24	chr5:127552600-127553600	Enhancers	NHLF	lung
25	chr5:127552600-127553800	Enhancers	Right Ventricle	heart

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