Variant report

Variant	esv3411339
Chromosome Location	chr4:102263653-102263879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102048414..102050219-chr4:102262763..102264265,2	MCF-7	breast:
2	chr4:102263328..102265199-chr4:102265515..102267436,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73835941	chr4:102263725-102263726	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558377252	chr4:102263749-102263750	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs968222	chr4:102263790-102263791	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576824030	chr4:102263794-102263795	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537540742	chr4:102263815-102263816	Weak transcription Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102249600-102266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:102250200-102265200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:102250400-102265800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:102250600-102266000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:102251200-102265800	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:102252000-102265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:102252200-102266000	Weak transcription	Fetal Lung	lung
8	chr4:102252800-102266400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:102254000-102266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:102255200-102266400	Weak transcription	Gastric	stomach
11	chr4:102255400-102266600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:102256400-102265800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:102256600-102264400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:102256600-102266000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:102256800-102265800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:102256800-102266200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:102257000-102264200	Weak transcription	Ovary	ovary
18	chr4:102257000-102266400	Weak transcription	Left Ventricle	heart
19	chr4:102257000-102266400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:102257000-102266400	Weak transcription	Right Ventricle	heart
21	chr4:102257000-102266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:102257600-102266600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:102258000-102266200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:102258200-102266400	Weak transcription	Spleen	Spleen
25	chr4:102258400-102266000	Weak transcription	HepG2	liver
26	chr4:102258600-102264800	Weak transcription	Dnd41	blood
27	chr4:102258800-102265800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:102258800-102265800	Weak transcription	Adipose Nuclei	Adipose
29	chr4:102258800-102266400	Weak transcription	HSMM	muscle
30	chr4:102259000-102264200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:102259000-102265800	Weak transcription	Brain Germinal Matrix	brain
32	chr4:102259000-102266400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:102259200-102264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:102259200-102265000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:102259200-102266600	Weak transcription	Pancreas	Pancrea
36	chr4:102259400-102265600	Weak transcription	NH-A	brain
37	chr4:102259400-102265600	Weak transcription	NHLF	lung
38	chr4:102259400-102265800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:102259400-102266200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:102259600-102265600	Weak transcription	NHDF-Ad	bronchial
41	chr4:102259600-102265800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:102259600-102266000	Weak transcription	Osteobl	bone
43	chr4:102259800-102265800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:102260000-102265800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:102260200-102264200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:102260400-102264000	Weak transcription	Brain Anterior Caudate	brain
47	chr4:102260400-102265800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:102260400-102265800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:102260400-102266000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:102260400-102266200	Weak transcription	Right Atrium	heart

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