Variant report

Variant	esv3365263
Chromosome Location	chr4:87252358-87252848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528698600	chr4:87252359-87252360	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75731818	chr4:87252400-87252401	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568221444	chr4:87252419-87252420	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529337100	chr4:87252420-87252421	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550608007	chr4:87252440-87252441	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116085946	chr4:87252447-87252448	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537384150	chr4:87252468-87252469	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10010952	chr4:87252596-87252597	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553470336	chr4:87252633-87252634	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200499915	chr4:87252687-87252688	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185978823	chr4:87252734-87252735	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553195671	chr4:87252735-87252736	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574634362	chr4:87252740-87252741	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535523943	chr4:87252751-87252752	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7677400	chr4:87252797-87252798	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575150174	chr4:87252799-87252800	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376830902	chr4:87252846-87252847	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115144819	chr4:87252847-87252848	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87239400-87252400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:87239400-87254400	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:87239400-87258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:87242000-87270000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:87247600-87259600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:87247600-87273400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:87248200-87252600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:87250000-87257800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:87250200-87253200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:87251000-87252600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:87251400-87253000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:87251800-87252800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:87252000-87252800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:87252000-87253800	Enhancers	Brain Anterior Caudate	brain
15	chr4:87252200-87253000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:87252200-87253000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:87252200-87253000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:87252200-87253200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:87252200-87253800	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:87252200-87254600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:87252400-87252600	Enhancers	Brain Angular Gyrus	brain
22	chr4:87252400-87252600	Enhancers	NHDF-Ad	bronchial
23	chr4:87252400-87252600	Enhancers	NHLF	lung
24	chr4:87252400-87252800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:87252400-87252800	Enhancers	Brain Substantia Nigra	brain
26	chr4:87252400-87252800	Enhancers	Fetal Lung	lung
27	chr4:87252400-87253000	Enhancers	Fetal Kidney	kidney
28	chr4:87252400-87253000	Enhancers	NHEK	skin
29	chr4:87252400-87253400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:87252600-87252800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:87252600-87253000	Weak transcription	Brain Angular Gyrus	brain
32	chr4:87252600-87253000	Enhancers	Fetal Brain Male	brain
33	chr4:87252600-87253200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr4:87252600-87254600	Weak transcription	NHDF-Ad	bronchial
35	chr4:87252600-87254600	Weak transcription	NHLF	lung
36	chr4:87252800-87255200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:87252800-87258800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:87252800-87259400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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