Variant report

Variant	rs3816191
Chromosome Location	chr2:55138379-55138380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13011849	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1438818	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2304686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304688	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6728757	0.89[EUR][1000 genomes]
rs7355716	0.84[CHB][hapmap]

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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3816191	CCDC85A	cis	parietal	SCAN
rs3816191	TSPYL6	cis	cerebellum	SCAN
rs3816191	CCDC104	cis	cerebellum	SCAN
rs3816191	EML6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55132000-55140600	Weak transcription	Esophagus	oesophagus
3	chr2:55134000-55153800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:55134200-55147600	Weak transcription	Fetal Brain Female	brain
5	chr2:55134400-55153600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:55136200-55140400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:55136200-55145600	Weak transcription	HepG2	liver
8	chr2:55136800-55140400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:55136800-55142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:55137600-55139600	Weak transcription	NHLF	lung
11	chr2:55137800-55140400	Weak transcription	NHDF-Ad	bronchial

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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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