Variant report

Variant	rs10783282
Chromosome Location	chr12:49146947-49146948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10783283	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875870	0.80[ASN][1000 genomes]
rs10875871	0.81[ASN][1000 genomes]
rs11168713	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168714	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11168720	0.99[ASN][1000 genomes]
rs11168721	0.85[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs11168723	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168724	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12172773	0.94[ASN][1000 genomes]
rs12424545	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12810920	0.81[ASN][1000 genomes]
rs12829842	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760644	0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs7954589	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953672	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.99[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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10783282	C12orf41	cis	cerebellum	SCAN
rs10783282	SNORA2B	cis	cerebellum	SCAN
rs10783282	KANSL2	cis	lung	GTEx
rs10783282	C12orf41	cis	parietal	SCAN
rs10783282	FLJ20436	cis	multi-tissue	Pritchard
rs10783282	FAM186B	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49134600-49161800	Weak transcription	A549	lung
2	chr12:49144000-49147800	Weak transcription	Placenta	Placenta
3	chr12:49144800-49158400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:49144800-49159400	Weak transcription	HSMMtube	muscle
5	chr12:49145000-49147000	Weak transcription	Fetal Heart	heart
6	chr12:49145400-49152000	Weak transcription	Stomach Mucosa	stomach
7	chr12:49145400-49158400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:49145400-49158600	Weak transcription	Gastric	stomach
9	chr12:49146800-49147800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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