Variant report

Variant	esv3405117
Chromosome Location	chr4:94224879-94226127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112544545	chr4:94224884-94224885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151284691	chr4:94224893-94224894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564566221	chr4:94224900-94224901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535623124	chr4:94224936-94224937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555534956	chr4:94224951-94224952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575445324	chr4:94224966-94224967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80012407	chr4:94224987-94224988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143254153	chr4:94224992-94224993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577529661	chr4:94224998-94224999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540208488	chr4:94225011-94225012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190874535	chr4:94225017-94225018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79579076	chr4:94225035-94225036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182731365	chr4:94225081-94225082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375044711	chr4:94225115-94225116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75863625	chr4:94225170-94225171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531558604	chr4:94225249-94225250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114633691	chr4:94225294-94225295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146700125	chr4:94225333-94225334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192056111	chr4:94225347-94225348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570434075	chr4:94225359-94225360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11324322	chr4:94225368-94225369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397994539	chr4:94225374-94225375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145476183	chr4:94225409-94225410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34224208	chr4:94225420-94225421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59940813	chr4:94225426-94225427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397994540	chr4:94225429-94225430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62307805	chr4:94225499-94225500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182829584	chr4:94225507-94225508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535518710	chr4:94225545-94225546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373537696	chr4:94225547-94225548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59578568	chr4:94225585-94225586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538062099	chr4:94225590-94225591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557962236	chr4:94225605-94225606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187253165	chr4:94225660-94225661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540616262	chr4:94225670-94225671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77608698	chr4:94225684-94225685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573565532	chr4:94225745-94225746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542698147	chr4:94225791-94225792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200566935	chr4:94225795-94225796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562587732	chr4:94225813-94225814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149184795	chr4:94225852-94225853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35397640	chr4:94225865-94225866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577436552	chr4:94225883-94225884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564980664	chr4:94225884-94225885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376747258	chr4:94225889-94225890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560504936	chr4:94225908-94225909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528087591	chr4:94225917-94225918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547386800	chr4:94225953-94225954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570090702	chr4:94225985-94225986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192182595	chr4:94226005-94226006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	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
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94220600-94226400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:94221200-94225000	Enhancers	HMEC	breast
3	chr4:94222000-94228400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:94224400-94225000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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