Variant report

Variant	rs319567
Chromosome Location	chr13:93833516-93833517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs319548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319549	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319550	0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319565	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs319566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs390904	0.85[YRI][hapmap]
rs417537	0.83[YRI][hapmap]
rs421861	0.85[YRI][hapmap]
rs427842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs428015	0.85[YRI][hapmap]
rs428591	0.81[YRI][hapmap]
rs437481	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4627192	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7335911	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832682	chr13:93700861-93874801	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900912	chr13:93800114-93853929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv900913	chr13:93814026-93853929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv900914	chr13:93814026-93858612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv900915	chr13:93814026-93861348	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv900916	chr13:93814026-93869041	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv456073	chr13:93816293-93842399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv456075	chr13:93816293-93842399	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv562747	chr13:93816293-93842399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv456076	chr13:93816293-93853929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv562748	chr13:93816293-93853929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv900917	chr13:93816293-93858612	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv900918	chr13:93816293-93861348	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:93832200-93833600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr13:93832200-93833600	Enhancers	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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