Variant report

Variant	rs10994563
Chromosome Location	chr10:52569637-52569638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10508933	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs10994249	0.82[EUR][1000 genomes]
rs10994585	0.96[EUR][1000 genomes]
rs11598887	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs12357484	0.93[EUR][1000 genomes]
rs12780124	0.94[EUR][1000 genomes]
rs12783029	0.94[TSI][hapmap]
rs4282939	0.93[EUR][1000 genomes]
rs4347324	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs4460764	0.96[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs61856568	0.94[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	nsv1035197	chr10:52446582-52622349	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10994563	FRMPD2	cis	cerebellum	SCAN
rs10994563	CTSLP4	cis	Thyroid	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52555200-52575800	Weak transcription	Pancreas	Pancrea
2	chr10:52565800-52575400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:52565800-52592000	Weak transcription	Stomach Mucosa	stomach
4	chr10:52567200-52574800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:52567400-52570000	Enhancers	Liver	Liver
6	chr10:52567600-52569800	Genic enhancers	HepG2	liver
7	chr10:52568400-52571400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:52568600-52569800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr10:52569000-52573400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr10:52569200-52572400	Strong transcription	Fetal Intestine Large	intestine
11	chr10:52569400-52569800	Strong transcription	Fetal Intestine Small	intestine
12	chr10:52569400-52570000	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr10:52569600-52570000	Enhancers	NHDF-Ad	bronchial
14	chr10:52569600-52570800	Strong transcription	Duodenum Mucosa	Duodenum

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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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