Variant report

Variant	rs2448966
Chromosome Location	chr3:99129283-99129284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1031966	0.81[EUR][1000 genomes]
rs1031967	0.81[EUR][1000 genomes]
rs1383847	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481529	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1481530	0.81[EUR][1000 genomes]
rs1531729	0.81[JPT][hapmap]
rs1531732	0.81[ASN][1000 genomes]
rs1580367	0.81[EUR][1000 genomes]
rs1600780	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1812813	0.81[EUR][1000 genomes]
rs1871790	0.81[EUR][1000 genomes]
rs1871794	0.88[EUR][1000 genomes]
rs1997405	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2101108	0.81[EUR][1000 genomes]
rs2128025	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2170385	0.81[EUR][1000 genomes]
rs2170386	0.81[EUR][1000 genomes]
rs2219969	0.81[EUR][1000 genomes]
rs2219975	0.81[ASN][1000 genomes]
rs2245940	0.81[EUR][1000 genomes]
rs2448969	0.81[EUR][1000 genomes]
rs2464139	0.81[EUR][1000 genomes]
rs2464148	0.81[EUR][1000 genomes]
rs2623318	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2623319	0.81[EUR][1000 genomes]
rs2623320	0.81[EUR][1000 genomes]
rs2623321	0.81[EUR][1000 genomes]
rs2623323	0.81[EUR][1000 genomes]
rs2623324	0.81[EUR][1000 genomes]
rs2623325	0.81[EUR][1000 genomes]
rs2623326	0.81[EUR][1000 genomes]
rs2623327	0.81[EUR][1000 genomes]
rs2623328	0.81[EUR][1000 genomes]
rs2623329	0.81[EUR][1000 genomes]
rs2623330	0.81[EUR][1000 genomes]
rs2623331	0.81[EUR][1000 genomes]
rs2623332	0.81[EUR][1000 genomes]
rs2623336	0.81[EUR][1000 genomes]
rs2623338	0.81[EUR][1000 genomes]
rs2623339	0.81[EUR][1000 genomes]
rs2623340	0.81[EUR][1000 genomes]
rs2623342	0.81[EUR][1000 genomes]
rs2623347	0.81[EUR][1000 genomes]
rs2623348	0.81[EUR][1000 genomes]
rs2623349	0.81[EUR][1000 genomes]
rs2623350	0.81[EUR][1000 genomes]
rs2623351	0.81[EUR][1000 genomes]
rs2623354	0.81[EUR][1000 genomes]
rs2623355	0.81[EUR][1000 genomes]
rs2623356	0.81[EUR][1000 genomes]
rs2623374	0.90[CHB][hapmap]
rs2623376	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2700586	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2700587	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2700590	0.81[EUR][1000 genomes]
rs2700592	0.81[EUR][1000 genomes]
rs2700593	0.81[EUR][1000 genomes]
rs2700594	0.81[EUR][1000 genomes]
rs2700595	0.81[EUR][1000 genomes]
rs2700599	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2700606	0.81[EUR][1000 genomes]
rs2700608	0.81[EUR][1000 genomes]
rs2700609	0.81[EUR][1000 genomes]
rs2700610	0.81[EUR][1000 genomes]
rs2700615	0.81[EUR][1000 genomes]
rs2700623	0.81[EUR][1000 genomes]
rs2700624	0.81[EUR][1000 genomes]
rs2700626	0.81[ASN][1000 genomes]
rs2700635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700636	0.81[EUR][1000 genomes]
rs2700637	0.81[EUR][1000 genomes]
rs2700641	0.81[EUR][1000 genomes]
rs2700642	0.81[EUR][1000 genomes]
rs2700647	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2700648	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2700667	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2700668	0.90[CHB][hapmap]
rs2929433	0.81[EUR][1000 genomes]
rs2929434	0.81[EUR][1000 genomes]
rs2929435	0.81[EUR][1000 genomes]
rs2929437	0.81[EUR][1000 genomes]
rs2929440	0.81[EUR][1000 genomes]
rs2929441	0.81[EUR][1000 genomes]
rs2929442	0.81[EUR][1000 genomes]
rs2929443	0.81[ASN][1000 genomes]
rs2951491	0.81[EUR][1000 genomes]
rs2951493	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960092	0.81[EUR][1000 genomes]
rs4365660	0.81[EUR][1000 genomes]
rs4530567	0.81[EUR][1000 genomes]
rs6807371	0.81[EUR][1000 genomes]
rs7625600	0.81[EUR][1000 genomes]
rs969987	0.81[EUR][1000 genomes]
rs9756004	0.87[EUR][1000 genomes]
rs9758342	0.85[EUR][1000 genomes]
rs9835548	0.81[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
rs2448966	DCBLD2	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99118400-99130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:99118600-99132800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:99128400-99133400	Enhancers	NHDF-Ad	bronchial
4	chr3:99128800-99129800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:99128800-99130200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:99128800-99132800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:99128800-99133800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:99129000-99130200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:99129000-99130200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:99129000-99130200	Enhancers	NHLF	lung
11	chr3:99129000-99130400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:99129000-99130600	Enhancers	Osteobl	bone
13	chr3:99129200-99129400	Enhancers	GM12878-XiMat	blood
14	chr3:99129200-99130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:99129200-99130200	Enhancers	NH-A	brain

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