Variant report

Variant	rs9985312
Chromosome Location	chr3:34249893-34249894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12054108	0.89[ASN][1000 genomes]
rs56032332	0.93[ASN][1000 genomes]
rs56106035	0.91[ASN][1000 genomes]
rs56302682	0.94[ASN][1000 genomes]
rs6550259	0.90[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs6780603	0.91[ASN][1000 genomes]
rs6784859	0.92[ASN][1000 genomes]
rs6808824	0.86[ASN][1000 genomes]
rs9311048	0.89[ASN][1000 genomes]
rs9985381	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001599	chr3:34149575-34437701	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536533	chr3:34149575-34437701	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv876682	chr3:34149814-34401451	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv916961	chr3:34203879-34506554	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv14613	chr3:34249637-34250826	Weak transcription Enhancers Genic enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34243000-34250600	Weak transcription	Thymus	Thymus
2	chr3:34244000-34255000	Weak transcription	Right Atrium	heart
3	chr3:34247400-34250200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:34247400-34250800	Enhancers	HUVEC	blood vessel
5	chr3:34248600-34250000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:34248600-34250800	Enhancers	Stomach Smooth Muscle	stomach
7	chr3:34249200-34250200	Enhancers	Fetal Heart	heart
8	chr3:34249200-34253600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:34249400-34250000	Enhancers	Colon Smooth Muscle	Colon
10	chr3:34249400-34250000	Enhancers	Fetal Stomach	stomach
11	chr3:34249600-34250000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:34249600-34250200	Enhancers	Rectal Smooth Muscle	rectum
13	chr3:34249600-34250400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:34249800-34250200	Enhancers	Aorta	Aorta
15	chr3:34249800-34250600	Weak transcription	NH-A	brain
16	chr3:34249800-34253600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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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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