Variant report

Variant	rs12543503
Chromosome Location	chr8:95811984-95811985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10095896	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10101523	0.96[CEU][hapmap]
rs12234995	0.91[CEU][hapmap]
rs12541990	0.83[CEU][hapmap];0.88[JPT][hapmap]
rs12547930	0.81[CEU][hapmap]
rs13262255	0.92[CEU][hapmap]
rs17718793	0.96[CEU][hapmap]
rs4735324	0.80[CEU][hapmap]
rs6471483	0.94[CEU][hapmap]
rs7387701	0.92[CEU][hapmap]
rs7813205	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7824039	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7826057	0.81[CEU][hapmap]
rs7840896	0.92[CEU][hapmap]
rs7844431	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12543503	RBM12B	cis	cerebellum	SCAN
rs12543503	GAD2	trans	brain	seeQTL
rs12543503	SLC26A7	cis	parietal	SCAN
rs12543503	RAD54B	cis	cerebellum	SCAN
rs12543503	FAM92A1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95786200-95812800	Weak transcription	Gastric	stomach
2	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:95799200-95814400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:95810000-95814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:95810200-95818800	Weak transcription	K562	blood
6	chr8:95810200-95819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:95811600-95812200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr8:95811800-95812000	Enhancers	Ovary	ovary
9	chr8:95811800-95812000	Enhancers	Spleen	Spleen
10	chr8:95811800-95812200	Enhancers	Fetal Heart	heart

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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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