Variant report

Variant	rs12695786
Chromosome Location	chr3:98586900-98586901
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	chr3:98586570..98588737-chr3:98593085..98595243,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10935513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10935514	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12632798	0.86[AMR][1000 genomes]
rs12636683	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13071075	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13081543	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13316760	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13319666	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371687	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2333923	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2340794	0.80[AMR][1000 genomes]
rs2439237	0.84[ASN][1000 genomes]
rs278379	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35483904	0.89[AMR][1000 genomes]
rs35760367	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4546099	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4577404	0.86[AMR][1000 genomes]
rs4857415	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6767370	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6791389	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7615856	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828614	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs828617	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs828621	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs955351	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9682876	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9837206	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9842522	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9880179	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv3440308	chr3:98582662-98587060	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3441569	chr3:98585311-98607020	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12695786	DCBLD2	cis	Adipose Subcutaneous	GTEx
rs12695786	DCBLD2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98536200-98594200	Weak transcription	HepG2	liver
2	chr3:98537000-98592800	Weak transcription	K562	blood
3	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:98575200-98590200	Weak transcription	HSMMtube	muscle
6	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:98575800-98593200	Weak transcription	HUVEC	blood vessel
8	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:98576000-98589800	Weak transcription	HMEC	breast
11	chr3:98576000-98590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
13	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
14	chr3:98578000-98587400	Weak transcription	NHEK	skin
15	chr3:98578000-98588800	Weak transcription	NHLF	lung
16	chr3:98578000-98590400	Weak transcription	Adipose Nuclei	Adipose
17	chr3:98578000-98601000	Weak transcription	Lung	lung
18	chr3:98578200-98590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:98578800-98589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:98583800-98590800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:98584400-98587400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:98584400-98587800	Weak transcription	HSMM	muscle
24	chr3:98584400-98589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:98584400-98589800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:98584400-98590000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:98584400-98590000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:98584400-98590200	Weak transcription	NHDF-Ad	bronchial
29	chr3:98584400-98591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:98584400-98591000	Weak transcription	Dnd41	blood
31	chr3:98584400-98593400	Weak transcription	Fetal Heart	heart
32	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:98584600-98589000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:98586200-98587400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:98586200-98588000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr3:98586200-98588600	Strong transcription	Osteobl	bone
38	chr3:98586200-98588800	Strong transcription	A549	lung
39	chr3:98586200-98591400	Strong transcription	NH-A	brain
40	chr3:98586200-98594000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:98586200-98595800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:98586400-98589400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:98586400-98594000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:98586600-98587000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:98586600-98587800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:98586600-98591200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:98586600-98594200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:98586600-98598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr3:98586800-98590600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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