Variant report

Variant	rs1821254
Chromosome Location	chr5:167440407-167440408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10039736	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11134483	0.87[ASN][1000 genomes]
rs11134485	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11955430	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12522181	0.84[ASN][1000 genomes]
rs12523097	0.80[EUR][1000 genomes]
rs1345735	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17069646	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862419	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2546944	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2546957	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2546960	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2569047	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2617963	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2617981	0.84[ASN][1000 genomes]
rs55859018	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs889067	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs985650	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs992047	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167423400-167440600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167423400-167455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:167432400-167442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:167432600-167442000	Weak transcription	NHEK	skin
5	chr5:167432800-167440800	Weak transcription	Fetal Brain Male	brain
6	chr5:167434200-167442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:167434800-167447600	Weak transcription	NH-A	brain
8	chr5:167437000-167441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167437200-167444000	Weak transcription	Left Ventricle	heart
10	chr5:167438000-167448200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:167438400-167443600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:167439400-167441600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:167439400-167442200	Weak transcription	HSMM	muscle
14	chr5:167439600-167441600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167440000-167443600	Weak transcription	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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