Variant report

Variant	rs1945495
Chromosome Location	chr13:39473257-39473258
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11616774	0.83[AMR][1000 genomes]
rs11618539	0.84[AMR][1000 genomes]
rs4146172	0.84[AMR][1000 genomes]
rs61945502	0.84[AMR][1000 genomes]
rs7491289	0.81[JPT][hapmap]
rs9548536	0.81[EUR][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1945495	C13orf38	cis	cerebellum	SCAN
rs1945495	AXL	trans	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39463000-39476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:39472800-39473400	Enhancers	Colon Smooth Muscle	Colon
3	chr13:39472800-39473400	Enhancers	Fetal Stomach	stomach
4	chr13:39472800-39473400	Active TSS	Stomach Smooth Muscle	stomach
5	chr13:39472800-39473800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:39473200-39474000	Enhancers	Fetal Intestine Large	intestine
7	chr13:39473200-39474000	Enhancers	Fetal Muscle Leg	muscle

Quick Search:

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

what's new

Quick links