Variant report

Variant	rs2802411
Chromosome Location	chr13:47710765-47710766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1819501	0.81[EUR][1000 genomes]
rs1855286	0.81[EUR][1000 genomes]
rs2567675	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2802409	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2802410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992586	0.88[EUR][1000 genomes]
rs9534557	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv455877	chr13:47701640-47728087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv561584	chr13:47701640-47728087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2802411	SNORA31	cis	cerebellum	SCAN
rs2802411	EBPL	cis	cerebellum	SCAN
rs2802411	BRP44	trans	cerebellum	SCAN
rs2802411	RCBTB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47709600-47711800	Enhancers	Liver	Liver
2	chr13:47709800-47711000	Enhancers	Fetal Kidney	kidney
3	chr13:47710000-47711400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr13:47710000-47711600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr13:47710200-47711200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:47710200-47711600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:47710200-47711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:47710400-47711200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:47710400-47711400	Weak transcription	Pancreas	Pancrea
10	chr13:47710400-47712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr13:47710600-47711600	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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