Variant report

Variant	rs2700648
Chromosome Location	chr3:99107683-99107684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1383845	0.80[EUR][1000 genomes]
rs1383847	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1383852	0.80[EUR][1000 genomes]
rs1383855	0.80[EUR][1000 genomes]
rs1383858	0.80[EUR][1000 genomes]
rs1383859	0.80[EUR][1000 genomes]
rs1406543	0.80[EUR][1000 genomes]
rs1481522	0.80[EUR][1000 genomes]
rs1481529	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1481541	0.80[EUR][1000 genomes]
rs1481545	0.80[EUR][1000 genomes]
rs1481546	0.80[EUR][1000 genomes]
rs1481549	0.80[EUR][1000 genomes]
rs1531729	0.81[JPT][hapmap]
rs1531732	0.82[ASN][1000 genomes]
rs1600780	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1871794	0.90[EUR][1000 genomes]
rs1997405	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2128025	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2219975	0.83[ASN][1000 genomes]
rs2448966	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2623318	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2623363	0.80[EUR][1000 genomes]
rs2623364	0.80[EUR][1000 genomes]
rs2623371	0.80[EUR][1000 genomes]
rs2623372	0.80[EUR][1000 genomes]
rs2623373	0.80[EUR][1000 genomes]
rs2623374	0.90[CHB][hapmap]
rs2623375	0.80[EUR][1000 genomes]
rs2623376	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2700586	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2700587	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2700599	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2700601	0.80[EUR][1000 genomes]
rs2700602	0.80[EUR][1000 genomes]
rs2700603	0.80[EUR][1000 genomes]
rs2700611	0.80[EUR][1000 genomes]
rs2700626	0.82[ASN][1000 genomes]
rs2700635	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2700646	0.80[EUR][1000 genomes]
rs2700647	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700649	0.80[EUR][1000 genomes]
rs2700667	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2700668	0.90[CHB][hapmap]
rs2700671	0.80[EUR][1000 genomes]
rs2700672	0.80[EUR][1000 genomes]
rs2929443	0.82[ASN][1000 genomes]
rs2929444	0.80[EUR][1000 genomes]
rs2951492	0.80[EUR][1000 genomes]
rs2951493	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2960093	0.80[EUR][1000 genomes]
rs744189	0.80[EUR][1000 genomes]
rs767808	0.80[EUR][1000 genomes]
rs9756004	0.89[EUR][1000 genomes]
rs9758342	0.87[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2700648	DCBLD2	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99092600-99112600	Weak transcription	NHLF	lung
2	chr3:99105000-99116800	Weak transcription	Aorta	Aorta
3	chr3:99107200-99108000	Enhancers	Osteobl	bone
4	chr3:99107400-99107800	Enhancers	NHDF-Ad	bronchial
5	chr3:99107400-99108000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:99107600-99108000	Enhancers	HUVEC	blood vessel

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