Variant report

Variant	rs13316760
Chromosome Location	chr3:98642487-98642488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98619561..98621947-chr3:98640525..98642623,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057019	Chromatin interaction
ENSG00000239462	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10935513	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10935514	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs12632798	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12636683	0.80[AMR][1000 genomes]
rs12695786	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13071075	0.84[AMR][1000 genomes]
rs13081543	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13319666	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371687	0.83[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1383906	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1383907	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1481631	0.82[ASN][1000 genomes]
rs1967009	0.80[CHB][hapmap]
rs2062058	0.89[ASN][1000 genomes]
rs2062059	0.84[CHB][hapmap]
rs2333923	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2340794	0.80[AMR][1000 genomes]
rs2439237	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs2449046	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470853	0.89[ASN][1000 genomes]
rs2470855	0.89[ASN][1000 genomes]
rs2470870	0.89[ASN][1000 genomes]
rs2470872	0.90[ASN][1000 genomes]
rs2470873	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470877	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2470878	0.81[AMR][1000 genomes]
rs2470880	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs278376	0.87[CEU][hapmap]
rs278379	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs278380	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs278381	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs278382	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs278387	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs278388	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs278390	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs35483904	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35760367	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35936923	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4546099	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4577404	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4857415	0.82[AMR][1000 genomes]
rs4857416	0.86[AFR][1000 genomes]
rs6767370	0.82[AMR][1000 genomes]
rs6774875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6791389	0.81[AMR][1000 genomes]
rs7615628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7615856	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs828605	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs828610	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs828614	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs828616	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs828617	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs828621	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs852701	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs870202	0.89[ASN][1000 genomes]
rs8833	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs955351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs964163	0.81[AFR][1000 genomes]
rs9682876	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9837206	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9842522	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9880179	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13316760	DCBLD2	cis	Skin Sun Exposed Lower leg	GTEx
rs13316760	DCBLD2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98636400-98643600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:98640000-98642800	Enhancers	NHEK	skin
3	chr3:98640000-98643000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:98640200-98643000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:98640400-98643200	Enhancers	Hela-S3	cervix
6	chr3:98640400-98643600	Enhancers	HMEC	breast
7	chr3:98640600-98642600	Enhancers	Osteobl	bone
8	chr3:98640600-98642800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:98640600-98643200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:98640800-98642600	Enhancers	HUVEC	blood vessel
11	chr3:98640800-98642600	Enhancers	NH-A	brain
12	chr3:98640800-98642800	Enhancers	HSMM	muscle
13	chr3:98640800-98643200	Flanking Active TSS	A549	lung
14	chr3:98641600-98642800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:98641800-98642600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:98642000-98642600	Enhancers	HepG2	liver
17	chr3:98642000-98643600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:98642200-98642600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:98642200-98642600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:98642200-98643400	Enhancers	Muscle Satellite Cultured Cells	--

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