Variant report

Variant	rs1383847
Chromosome Location	chr3:99093509-99093510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1383846	0.81[ASN][1000 genomes]
rs1481529	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481551	0.81[ASN][1000 genomes]
rs1531731	0.81[ASN][1000 genomes]
rs1531732	0.94[ASN][1000 genomes]
rs1600780	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1871794	0.94[EUR][1000 genomes]
rs1997405	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2128025	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219975	0.95[ASN][1000 genomes]
rs2448966	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2464140	0.81[ASN][1000 genomes]
rs2464146	0.81[AMR][1000 genomes]
rs2470689	0.81[AMR][1000 genomes]
rs2470692	0.81[ASN][1000 genomes]
rs2623318	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2623374	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2623376	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2700586	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2700587	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2700599	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2700626	0.94[ASN][1000 genomes]
rs2700627	0.81[ASN][1000 genomes]
rs2700635	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2700647	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2700648	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2700667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2700668	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs2929443	0.94[ASN][1000 genomes]
rs2951493	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs900057	0.81[ASN][1000 genomes]
rs9756004	0.92[EUR][1000 genomes]
rs9758342	0.91[EUR][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	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv877216	chr3:99065296-99161022	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99091600-99094000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:99091800-99093800	Enhancers	Osteobl	bone
3	chr3:99092200-99093600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:99092600-99112600	Weak transcription	NHLF	lung

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