Variant report

Variant	rs687962
Chromosome Location	chr3:109649625-109649626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs2693621	0.98[ASN][1000 genomes]
rs2693634	1.00[ASN][1000 genomes]
rs2700237	1.00[ASN][1000 genomes]
rs2950151	1.00[ASN][1000 genomes]
rs2950152	1.00[ASN][1000 genomes]
rs34825682	0.89[ASN][1000 genomes]
rs591010	0.97[ASN][1000 genomes]
rs593904	1.00[ASN][1000 genomes]
rs595732	1.00[ASN][1000 genomes]
rs598795	1.00[ASN][1000 genomes]
rs598837	1.00[ASN][1000 genomes]
rs599684	1.00[ASN][1000 genomes]
rs600581	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600604	1.00[ASN][1000 genomes]
rs601036	1.00[ASN][1000 genomes]
rs604088	0.97[ASN][1000 genomes]
rs605795	0.82[ASN][1000 genomes]
rs607043	0.87[ASN][1000 genomes]
rs610419	1.00[ASN][1000 genomes]
rs614845	1.00[ASN][1000 genomes]
rs617480	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs619279	0.82[ASN][1000 genomes]
rs620727	0.97[ASN][1000 genomes]
rs636972	1.00[ASN][1000 genomes]
rs642142	1.00[ASN][1000 genomes]
rs649118	0.84[ASN][1000 genomes]
rs652762	0.81[ASN][1000 genomes]
rs653349	0.81[ASN][1000 genomes]
rs656615	0.84[ASN][1000 genomes]
rs662181	1.00[ASN][1000 genomes]
rs666016	0.98[ASN][1000 genomes]
rs667006	1.00[ASN][1000 genomes]
rs671520	1.00[ASN][1000 genomes]
rs686100	1.00[ASN][1000 genomes]
rs686471	0.84[ASN][1000 genomes]
rs686694	0.82[ASN][1000 genomes]
rs687239	0.82[ASN][1000 genomes]
rs687619	0.82[ASN][1000 genomes]
rs688898	0.87[ASN][1000 genomes]
rs689213	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009075	chr3:109462019-109800029	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv591270	chr3:109462400-109793785	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877332	chr3:109575764-110186611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1009550	chr3:109577315-109795453	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1839660	chr3:109591203-109678542	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv829666	chr3:109593745-109768652	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2754434	chr3:109604310-109777310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv963568	chr3:109644954-109655353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3435888	chr3:109649312-109651260	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109647000-109656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:109647200-109651000	Weak transcription	NHEK	skin
3	chr3:109649000-109650000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:109649400-109649800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:109649400-109649800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:109649400-109649800	Enhancers	NH-A	brain
7	chr3:109649400-109650600	Weak transcription	A549	lung

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