Variant report

Variant	esv3410572
Chromosome Location	chr3:75951562-75955660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:75955590-75956027	SK-N-SH	brain:	n/a	chr3:75955887-75955900
2	CTCF	chr3:75953983-75954018	GM20000	blood:	n/a	n/a
3	MAX	chr3:75955659-75956100	H1-hESC	embryonic stem cell:	n/a	chr3:75955773-75955782
4	POLR2A	chr3:75952083-75952219	GM12878	blood:	n/a	n/a
5	RAD21	chr3:75955641-75956025	H1-hESC	embryonic stem cell:	n/a	chr3:75955879-75955893
6	RAD21	chr3:75955602-75956180	H1-hESC	embryonic stem cell:	n/a	chr3:75955879-75955893
7	ZNF263	chr3:75955451-75956121	HEK293-T-REx	kidney:	n/a	chr3:75955849-75955870

Variant related genes	Relation type
ROBO2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575805810	chr3:75952100-75952101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184457999	chr3:75952147-75952148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557911312	chr3:75952149-75952150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370829317	chr3:75952182-75952183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529809250	chr3:75952196-75952197	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553226009	chr3:75953984-75953985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs181091628	chr3:75954004-75954005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150510983	chr3:75954807-75954808	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532187501	chr3:75954811-75954812	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139483292	chr3:75954862-75954863	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560357354	chr3:75954926-75954927	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527866055	chr3:75954929-75954930	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549297705	chr3:75955035-75955036	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570164366	chr3:75955094-75955095	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs577053009	chr3:75955105-75955106	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs73841011	chr3:75955130-75955131	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531614919	chr3:75955168-75955169	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs560856604	chr3:75955171-75955172	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs151063300	chr3:75955183-75955184	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs571546202	chr3:75955325-75955326	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201839549	chr3:75955347-75955348	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190339847	chr3:75955403-75955404	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554291319	chr3:75955414-75955415	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565910242	chr3:75955513-75955514	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs536422876	chr3:75955523-75955524	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs554583955	chr3:75955659-75955660	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75954800-75955000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
2	chr3:75954800-75955000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:75954800-75955400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr3:75954800-75955400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr3:75954800-75955600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr3:75955000-75955600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:75955200-75955400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:75955200-75955600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:75955400-75955600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:75955400-75955600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr3:75955400-75955600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr3:75955400-75955600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr3:75955400-75955600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:75955400-75955600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:75955400-75955600	Active TSS	Brain Anterior Caudate	brain
16	chr3:75955400-75955600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:75955400-75955800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:75955400-75955800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:75955400-75955800	Active TSS	Brain Germinal Matrix	brain
20	chr3:75955400-75956400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr3:75955400-75956400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr3:75955400-75956800	Active TSS	Fetal Brain Male	brain
23	chr3:75955400-75958400	Active TSS	Fetal Brain Female	brain
24	chr3:75955600-75955800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr3:75955600-75955800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:75955600-75955800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:75955600-75955800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:75955600-75955800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr3:75955600-75955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:75955600-75955800	Active TSS	Adipose Nuclei	Adipose
31	chr3:75955600-75955800	Active TSS	Brain Cingulate Gyrus	brain
32	chr3:75955600-75955800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
33	chr3:75955600-75955800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr3:75955600-75955800	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr3:75955600-75955800	Active TSS	Fetal Muscle Leg	muscle
36	chr3:75955600-75955800	Active TSS	Fetal Stomach	stomach
37	chr3:75955600-75955800	Enhancers	Pancreas	Pancrea
38	chr3:75955600-75955800	Enhancers	Psoas Muscle	Psoas
39	chr3:75955600-75955800	Bivalent/Poised TSS	Right Ventricle	heart
40	chr3:75955600-75956000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:75955600-75956000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:75955600-75956000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr3:75955600-75956000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
44	chr3:75955600-75956200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:75955600-75956200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr3:75955600-75956200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:75955600-75956200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr3:75955600-75956200	Active TSS	Brain Angular Gyrus	brain
49	chr3:75955600-75956200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:75955600-75956200	Active TSS	Brain Substantia Nigra	brain

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