Variant report

Variant	rs2439237
Chromosome Location	chr3:98572853-98572854
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	chr3:98568796..98570579-chr3:98572052..98574202,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1062196	0.83[CHB][hapmap]
rs10935513	0.85[ASN][1000 genomes]
rs10935514	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs12054181	0.83[CHB][hapmap]
rs12632798	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs12695786	0.84[ASN][1000 genomes]
rs13081543	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13316760	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs13319666	0.82[ASN][1000 genomes]
rs1371687	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs1481631	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1837500	0.83[CHB][hapmap]
rs1866677	0.82[CHB][hapmap]
rs1866678	0.83[CHB][hapmap]
rs1967009	0.89[CHB][hapmap]
rs2062058	0.86[CEU][hapmap]
rs2062059	0.83[CHB][hapmap]
rs2119187	0.83[CHB][hapmap]
rs2119188	0.81[CHB][hapmap]
rs2246861	0.83[CHB][hapmap]
rs2333923	0.83[ASN][1000 genomes]
rs2439222	0.83[CHB][hapmap]
rs2439223	0.83[CHB][hapmap]
rs2439231	0.83[CHB][hapmap]
rs2439236	0.82[CHB][hapmap]
rs2454673	0.83[CHB][hapmap]
rs2454685	0.83[CHB][hapmap]
rs2470825	0.83[CHB][hapmap]
rs2470857	0.88[CHB][hapmap]
rs2470859	0.83[CHB][hapmap]
rs2470867	0.83[CHB][hapmap]
rs2470869	0.83[CHB][hapmap]
rs2470881	0.83[CHB][hapmap]
rs2470885	0.83[CHB][hapmap]
rs278376	0.89[JPT][hapmap]
rs278379	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs278380	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278381	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278382	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278387	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs278388	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs278390	1.00[JPT][hapmap]
rs35760367	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6774875	0.89[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap]
rs6782630	0.83[CHB][hapmap]
rs6785935	0.83[CHB][hapmap]
rs7615628	0.89[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs7615856	0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs828605	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs828610	1.00[JPT][hapmap]
rs828614	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs828616	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs828617	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs828621	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs852701	0.83[CHB][hapmap]
rs8833	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9289683	0.83[CHB][hapmap]
rs955351	0.94[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs9682876	0.84[ASN][1000 genomes]
rs9811860	0.83[CHB][hapmap]
rs9814819	0.83[CHB][hapmap]
rs9823430	0.83[CHB][hapmap]
rs9835142	0.83[CHB][hapmap]
rs9842522	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9843214	0.83[CHB][hapmap]
rs9852950	0.82[CHB][hapmap]
rs9873932	0.83[CHB][hapmap]
rs9880179	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2439237	DCBLD2	cis	Adipose Subcutaneous	GTEx
rs2439237	DCBLD2	cis	brain	BrainEAC
rs2439237	DCBLD2	cis	Artery Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98503400-98576400	Weak transcription	Gastric	stomach
2	chr3:98528200-98575400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:98536200-98594200	Weak transcription	HepG2	liver
4	chr3:98537000-98592800	Weak transcription	K562	blood
5	chr3:98552800-98575800	Weak transcription	Pancreas	Pancrea
6	chr3:98552800-98578000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:98552800-98579800	Weak transcription	Right Ventricle	heart
8	chr3:98553000-98575600	Weak transcription	Fetal Stomach	stomach
9	chr3:98553000-98576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:98553000-98576200	Weak transcription	Left Ventricle	heart
11	chr3:98553000-98590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:98558200-98577200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:98559600-98576800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:98560000-98575600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:98560200-98575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:98562400-98575600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:98563000-98574400	Weak transcription	HSMMtube	muscle
18	chr3:98563600-98576000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:98564600-98574800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:98567200-98574600	Weak transcription	Psoas Muscle	Psoas
21	chr3:98567200-98575200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:98567400-98575000	Weak transcription	Fetal Kidney	kidney
23	chr3:98567400-98575200	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:98567400-98578200	Weak transcription	Ovary	ovary
25	chr3:98567600-98574000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:98567600-98574400	Weak transcription	NHLF	lung
27	chr3:98567600-98574800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:98567600-98574800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr3:98567600-98575000	Weak transcription	Fetal Lung	lung
30	chr3:98567600-98575200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:98567600-98575400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:98567600-98575400	Weak transcription	Liver	Liver
33	chr3:98567600-98575400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:98567600-98575600	Weak transcription	Adipose Nuclei	Adipose
35	chr3:98567600-98575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:98567600-98575800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr3:98567800-98574200	Weak transcription	HUVEC	blood vessel
39	chr3:98567800-98575000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:98567800-98575400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:98567800-98575600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:98567800-98576200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:98567800-98577000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:98568000-98575800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:98568200-98578000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:98568400-98577200	Weak transcription	Dnd41	blood
47	chr3:98568600-98574800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:98569200-98573000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:98570000-98573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:98571200-98573400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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