Variant report

Variant	rs6993588
Chromosome Location	chr8:61375329-61375330
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12548711	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1552070	0.82[EUR][1000 genomes]
rs1893277	0.83[EUR][1000 genomes]
rs1941467	0.83[EUR][1000 genomes]
rs2155831	0.83[EUR][1000 genomes]
rs6471880	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6471881	0.83[EUR][1000 genomes]
rs6986664	0.83[EUR][1000 genomes]
rs6998307	0.82[EUR][1000 genomes]
rs7004236	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7819947	0.82[EUR][1000 genomes]
rs7824474	0.81[EUR][1000 genomes]
rs7828383	0.82[EUR][1000 genomes]
rs7831106	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6993588	RAB2A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61369400-61375600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:61369600-61379800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:61370600-61379800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:61371600-61375400	Enhancers	Fetal Brain Male	brain
5	chr8:61374600-61380000	Weak transcription	Aorta	Aorta
6	chr8:61374800-61376000	Weak transcription	Fetal Brain Female	brain
7	chr8:61375000-61376600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:61375000-61376600	Enhancers	NHDF-Ad	bronchial
9	chr8:61375000-61379600	Weak transcription	NHEK	skin
10	chr8:61375200-61375400	Enhancers	Fetal Lung	lung
11	chr8:61375200-61375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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