Variant report

Variant	esv2763377
Chromosome Location	chr4:91915401-91916120
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	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547245799	chr4:91915402-91915403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13133635	chr4:91915420-91915421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369085660	chr4:91915476-91915477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373041984	chr4:91915550-91915551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371899021	chr4:91915581-91915582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571950649	chr4:91915589-91915590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373634958	chr4:91915618-91915619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71598439	chr4:91915636-91915637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148458882	chr4:91915646-91915647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183849499	chr4:91915666-91915667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529824593	chr4:91915671-91915672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543242312	chr4:91915700-91915701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563166352	chr4:91915723-91915724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532604677	chr4:91915724-91915725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552392105	chr4:91915725-91915726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566060333	chr4:91915752-91915753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11290042	chr4:91915753-91915754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397994478	chr4:91915759-91915760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528517298	chr4:91915834-91915835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548884776	chr4:91915838-91915839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115954854	chr4:91915943-91915944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537760543	chr4:91916074-91916075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551158533	chr4:91916116-91916117	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal adenocarcinoma	18519675	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91912000-91915800	Weak transcription	Fetal Heart	heart
2	chr4:91915800-91916200	Enhancers	Fetal Heart	heart
3	chr4:91915800-91916600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:91916000-91916400	Enhancers	Fetal Kidney	kidney

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