Variant report

Variant	esv3452093
Chromosome Location	chr4:62196607-62199205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535049750	chr4:62196657-62196658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556661753	chr4:62196756-62196757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368512147	chr4:62196758-62196759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563129429	chr4:62196767-62196768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372292445	chr4:62196776-62196777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77754324	chr4:62196786-62196787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572993648	chr4:62196883-62196884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530752847	chr4:62196895-62196896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112150949	chr4:62196906-62196907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540163514	chr4:62196985-62196986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561981232	chr4:62196993-62196994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375695795	chr4:62197006-62197007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138658912	chr4:62197021-62197022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141158393	chr4:62197027-62197028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187349479	chr4:62197028-62197029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531066840	chr4:62197034-62197035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115233974	chr4:62197039-62197040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116673226	chr4:62197045-62197046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535179479	chr4:62197056-62197057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542308973	chr4:62197058-62197059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368446017	chr4:62197105-62197106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546994333	chr4:62197155-62197156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561045659	chr4:62197206-62197207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146953826	chr4:62197213-62197214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75085994	chr4:62197295-62197296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556574988	chr4:62197296-62197297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74555043	chr4:62197330-62197331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539207646	chr4:62197339-62197340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4361416	chr4:62197347-62197348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557790539	chr4:62197358-62197359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185314495	chr4:62197364-62197365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376654875	chr4:62197373-62197374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79824786	chr4:62197376-62197377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561709433	chr4:62197382-62197383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528212351	chr4:62197406-62197407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79080367	chr4:62197443-62197444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190240506	chr4:62197476-62197477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149502042	chr4:62197480-62197481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144040308	chr4:62197497-62197498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530879851	chr4:62197523-62197524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552400052	chr4:62197524-62197525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564570523	chr4:62197527-62197528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528702286	chr4:62197544-62197545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72614733	chr4:62197634-62197635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148261795	chr4:62197670-62197671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529585639	chr4:62197682-62197683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550861614	chr4:62197743-62197744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1505680	chr4:62197770-62197771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193277254	chr4:62197788-62197789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35078913	chr4:62197815-62197816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62186600-62202800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:62190200-62200600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:62194000-62202000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:62194800-62200600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:62196200-62198400	Weak transcription	Fetal Lung	lung
6	chr4:62198400-62198600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:62198400-62198600	Enhancers	Fetal Heart	heart
8	chr4:62198400-62198800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:62198400-62198800	Enhancers	Fetal Lung	lung
10	chr4:62198800-62200200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:62198800-62207400	Weak transcription	Fetal Lung	lung

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