Variant report

Variant	rs2063781
Chromosome Location	chr14:62677397-62677398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11622179	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1399524	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2090184	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28793052	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902111	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60686625	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7151478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72476707	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72476708	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055661	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055665	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74055666	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422467	chr14:62572710-62734332	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv902009	chr14:62627780-62730395	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv902010	chr14:62627780-62801651	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1044114	chr14:62659208-62705664	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv1037586	chr14:62659208-62708775	Weak transcription Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	nsv1037277	chr14:62662602-62786567	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2063781	PRKCH	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62673200-62678200	Enhancers	Hela-S3	cervix
2	chr14:62675400-62677400	Enhancers	HUVEC	blood vessel
3	chr14:62675400-62677400	Enhancers	NHDF-Ad	bronchial
4	chr14:62675400-62677400	Enhancers	NHLF	lung
5	chr14:62675400-62677600	Enhancers	NHEK	skin
6	chr14:62675600-62677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:62675600-62677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:62675600-62677400	Enhancers	HMEC	breast
9	chr14:62675600-62677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:62676000-62677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:62676400-62677800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:62676600-62677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:62676800-62678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:62677000-62677600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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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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