Variant report

Variant	rs12783029
Chromosome Location	chr10:52578112-52578113
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10508933	0.84[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10821876	0.95[JPT][hapmap]
rs10821887	0.95[JPT][hapmap]
rs10821888	0.86[JPT][hapmap]
rs10994191	0.91[CEU][hapmap]
rs10994563	0.94[TSI][hapmap]
rs10994585	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11598887	0.83[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12357484	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12780124	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4282939	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4347324	0.84[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4460764	0.84[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4935194	0.95[JPT][hapmap]
rs61856568	0.85[AMR][1000 genomes];0.91[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12783029	FRMPD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52565800-52592000	Weak transcription	Stomach Mucosa	stomach
2	chr10:52573400-52588200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:52574400-52586600	Strong transcription	Liver	Liver
4	chr10:52574800-52580400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr10:52575400-52580400	Strong transcription	Fetal Intestine Large	intestine
6	chr10:52575400-52580600	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr10:52575400-52585600	Strong transcription	HepG2	liver
8	chr10:52576800-52578600	Weak transcription	Fetal Intestine Small	intestine
9	chr10:52576800-52597200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:52577200-52578600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr10:52577200-52582400	Weak transcription	Pancreas	Pancrea

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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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