Variant report

Variant	rs517952
Chromosome Location	chr3:95017077-95017078
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12489010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1400294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1516588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2310404	1.00[AMR][1000 genomes]
rs4431111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4580554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs484543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4857158	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504450	1.00[AMR][1000 genomes]
rs507696	1.00[AMR][1000 genomes]
rs544112	1.00[AMR][1000 genomes]
rs547704	1.00[AMR][1000 genomes]
rs558349	1.00[AMR][1000 genomes]
rs6437746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6771121	1.00[AMR][1000 genomes]
rs6777611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6785501	1.00[AMR][1000 genomes]
rs6790242	1.00[AMR][1000 genomes]
rs6802883	1.00[AMR][1000 genomes]
rs6805510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013680	chr3:94777881-95538336	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536653	chr3:94777881-95538336	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv877170	chr3:94790666-95564838	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv999347	chr3:94832290-95177750	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv877175	chr3:94869561-95210873	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1011235	chr3:94870789-95238299	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv428091	chr3:94942642-95393754	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv428744	chr3:94960533-95145238	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv834767	chr3:94972069-95148035	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1002952	chr3:94972310-95025749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv536654	chr3:94972310-95025749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv967260	chr3:95001173-95021114	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:95009200-95020000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:95017000-95020600	Weak transcription	NH-A	brain

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