Variant report

Variant	esv3515594
Chromosome Location	chr4:142422097-142422680
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	chr4:142421998..142424894-chr4:142429511..142431178,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534158064	chr4:142422097-142422098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536600374	chr4:142422104-142422105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186182330	chr4:142422148-142422149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570152564	chr4:142422170-142422171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72940682	chr4:142422185-142422186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559194420	chr4:142422221-142422222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563016605	chr4:142422223-142422224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541370979	chr4:142422245-142422246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6838410	chr4:142422252-142422253	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574371521	chr4:142422297-142422298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541390188	chr4:142422301-142422302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563077381	chr4:142422394-142422395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191086477	chr4:142422472-142422473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376548772	chr4:142422482-142422483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563928266	chr4:142422485-142422486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs202152117	chr4:142422503-142422504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370948085	chr4:142422512-142422513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11397443	chr4:142422525-142422526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183628396	chr4:142422540-142422541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199697533	chr4:142422545-142422546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4956297	chr4:142422650-142422651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568315022	chr4:142422662-142422663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:142421800-142422200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:142422200-142423200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:142422200-142424400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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