Variant report

Variant	rs12584247
Chromosome Location	chr13:76584515-76584516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11149014	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11149020	1.00[AMR][1000 genomes]
rs11839322	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11840922	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11841217	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12583457	1.00[AMR][1000 genomes]
rs12583900	0.93[ASN][1000 genomes]
rs12583998	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12584083	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12584373	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12584639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1461988	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1576535	1.00[AMR][1000 genomes]
rs35344079	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7986747	1.00[AMR][1000 genomes]

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	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1054431	chr13:76460431-76885094	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541837	chr13:76460431-76885094	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76579400-76584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:76579600-76585800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:76580400-76586200	Weak transcription	Aorta	Aorta
4	chr13:76580400-76588400	Weak transcription	Ovary	ovary
5	chr13:76581200-76586000	Weak transcription	Fetal Heart	heart
6	chr13:76583200-76584600	Enhancers	Fetal Intestine Large	intestine
7	chr13:76583800-76588400	Weak transcription	NHLF	lung
8	chr13:76584200-76585800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:76584200-76585800	Weak transcription	NH-A	brain
10	chr13:76584200-76586200	Weak transcription	HSMMtube	muscle
11	chr13:76584400-76584600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:76584400-76584600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:76584400-76584800	Enhancers	A549	lung
14	chr13:76584400-76585000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:76584400-76585800	Weak transcription	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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