Variant report

Variant	rs2470870
Chromosome Location	chr3:98695761-98695762
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98695632..98696208-chr9:117342465..117342965,2	HCT-116	colon:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10935513	0.80[ASN][1000 genomes]
rs10935587	0.82[ASN][1000 genomes]
rs13316760	0.89[ASN][1000 genomes]
rs13319666	0.84[ASN][1000 genomes]
rs1383906	0.87[ASN][1000 genomes]
rs1383907	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1481631	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2062058	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2128052	0.82[ASN][1000 genomes]
rs2340794	0.81[ASN][1000 genomes]
rs2449046	0.86[ASN][1000 genomes]
rs2470853	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470855	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470872	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470873	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470877	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470878	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2470880	0.87[ASN][1000 genomes]
rs35936923	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4546099	0.89[ASN][1000 genomes]
rs4857416	0.82[ASN][1000 genomes]
rs6774875	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615628	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615856	0.81[ASN][1000 genomes]
rs870202	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955351	0.85[ASN][1000 genomes]
rs964163	0.82[ASN][1000 genomes]
rs9837206	0.93[ASN][1000 genomes]
rs9880179	0.85[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
rs2470870	DCBLD2	cis	Artery Tibial	GTEx
rs2470870	DCBLD2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98691000-98696200	Weak transcription	Hela-S3	cervix
2	chr3:98691400-98696400	Weak transcription	HSMM	muscle
3	chr3:98691600-98696400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:98691800-98696000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:98691800-98696400	Weak transcription	NHLF	lung
6	chr3:98692000-98696000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:98692000-98696000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:98692000-98696200	Weak transcription	NHEK	skin
9	chr3:98692000-98696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:98692000-98699600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:98693600-98696400	Weak transcription	NHDF-Ad	bronchial
12	chr3:98693600-98697400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:98695000-98696400	Enhancers	A549	lung
14	chr3:98695000-98696400	Enhancers	HUVEC	blood vessel
15	chr3:98695000-98697800	Enhancers	HMEC	breast
16	chr3:98695200-98696400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:98695200-98696400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:98695400-98696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:98695400-98698800	Enhancers	Osteobl	bone
20	chr3:98695600-98696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:98695600-98696600	Weak transcription	NH-A	brain
22	chr3:98695600-98696800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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