Variant report

Variant	rs2470853
Chromosome Location	chr3:98704822-98704823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98704040..98705831-chr3:98708883..98710475,2	K562	blood:

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	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1383907	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1481631	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2062058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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]
rs2470855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470870	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2470872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2470873	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470877	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2470878	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2470880	0.87[ASN][1000 genomes]
rs35936923	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4546099	0.89[ASN][1000 genomes]
rs4857416	0.82[ASN][1000 genomes]
rs6774875	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615856	0.81[ASN][1000 genomes]
rs870202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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
rs2470853	DCBLD2	cis	Adipose Subcutaneous	GTEx
rs2470853	DCBLD2	cis	Artery Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98697200-98705000	Weak transcription	HSMMtube	muscle
2	chr3:98700000-98705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:98701000-98705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:98701600-98706200	Enhancers	NHDF-Ad	bronchial
5	chr3:98702000-98705400	Flanking Active TSS	A549	lung
6	chr3:98702200-98705600	Enhancers	Osteobl	bone
7	chr3:98702400-98705600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:98702600-98705200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:98702600-98705600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:98702600-98705800	Enhancers	NHEK	skin
11	chr3:98703600-98705000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:98703600-98705600	Enhancers	HMEC	breast
13	chr3:98703800-98705800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:98704000-98705000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:98704000-98705000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:98704000-98705000	Enhancers	HSMM	muscle
17	chr3:98704000-98705600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:98704200-98705000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:98704200-98705400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:98704200-98705400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:98704200-98705600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:98704400-98705000	Flanking Active TSS	NHLF	lung
23	chr3:98704400-98705400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:98704400-98705600	Enhancers	Fetal Lung	lung
25	chr3:98704600-98705200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:98704600-98705200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:98704600-98705200	Enhancers	Fetal Heart	heart
28	chr3:98704600-98705200	Flanking Active TSS	HUVEC	blood vessel
29	chr3:98704600-98705800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:98704800-98705000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:98704800-98705000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:98704800-98705400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr3:98704800-98705400	Enhancers	Fetal Stomach	stomach
34	chr3:98704800-98705600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:98704800-98705600	Enhancers	NH-A	brain
36	chr3:98704800-98706200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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