Variant report

Variant	rs12114565
Chromosome Location	chr8:49822483-49822484
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10087659	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1561655	1.00[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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12114565	EFCAB1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49816000-49823000	Weak transcription	Spleen	Spleen
2	chr8:49816200-49830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:49816400-49823400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:49816600-49823800	Weak transcription	Ovary	ovary
5	chr8:49817400-49823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:49817800-49832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49818200-49824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:49818600-49824000	Weak transcription	NH-A	brain
9	chr8:49819200-49824600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:49819400-49824400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:49819800-49824000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:49820400-49829200	Weak transcription	NHDF-Ad	bronchial
13	chr8:49821200-49823800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:49821200-49824000	Enhancers	Fetal Lung	lung
15	chr8:49822000-49822600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:49822000-49822800	Enhancers	Fetal Kidney	kidney
17	chr8:49822200-49825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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Input of quick search could be:

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

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