Variant report

Variant	rs13011849
Chromosome Location	chr2:55146868-55146869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2304686	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2304688	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3816191	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7355716	0.83[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13011849	CCDC85A	cis	parietal	SCAN

Chromatin state (count:6 , 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	chr2:55134000-55153800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:55134200-55147600	Weak transcription	Fetal Brain Female	brain
4	chr2:55134400-55153600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:55143200-55147000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:55146800-55147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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