Variant report

Variant	esv2556485
Chromosome Location	chr4:87739347-87739353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151308617	chr4:87739347-87739348	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1420623	chr4:87739350-87739351	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87712600-87751400	Weak transcription	Aorta	Aorta
2	chr4:87712800-87739600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr4:87731200-87756000	Weak transcription	Pancreas	Pancrea
4	chr4:87732400-87760000	Weak transcription	Psoas Muscle	Psoas
5	chr4:87735600-87740400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:87737200-87739400	Weak transcription	NH-A	brain
7	chr4:87737200-87741000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:87737400-87739400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:87737400-87739400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:87737400-87739600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:87737400-87739600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:87737400-87739800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:87737400-87739800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:87737400-87741200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:87737400-87743600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:87737400-87744200	Weak transcription	Left Ventricle	heart
17	chr4:87737600-87739800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:87737600-87740200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:87737600-87740600	Enhancers	Fetal Lung	lung
20	chr4:87737600-87742200	Weak transcription	Fetal Kidney	kidney
21	chr4:87737600-87744600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:87737600-87746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:87737600-87752600	Weak transcription	Esophagus	oesophagus
24	chr4:87737800-87739800	Weak transcription	HMEC	breast
25	chr4:87737800-87739800	Enhancers	NHEK	skin
26	chr4:87737800-87741000	Enhancers	Fetal Intestine Large	intestine
27	chr4:87737800-87754800	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:87738000-87739800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:87738000-87741200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:87738000-87743000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:87738200-87739600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:87738200-87740000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:87738200-87740600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:87738200-87746800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:87738200-87752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:87738400-87739400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:87738400-87739800	Enhancers	NHDF-Ad	bronchial
38	chr4:87738400-87743200	Weak transcription	Adipose Nuclei	Adipose
39	chr4:87738400-87744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:87738400-87744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:87738400-87746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:87738600-87739600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:87738600-87741000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:87738600-87743400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:87738800-87739600	Enhancers	Small Intestine	intestine
46	chr4:87738800-87739600	Enhancers	NHLF	lung
47	chr4:87738800-87740000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:87739000-87739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:87739000-87739800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:87739000-87739800	Enhancers	Stomach Mucosa	stomach

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