Variant report

Variant	esv3428979
Chromosome Location	chr4:62190757-62193755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535244283	chr4:62190757-62190758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192886510	chr4:62190762-62190763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568623056	chr4:62190813-62190814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184942844	chr4:62190814-62190815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557231943	chr4:62190827-62190828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190234625	chr4:62190829-62190830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181375002	chr4:62190835-62190836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545355329	chr4:62190859-62190860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557449186	chr4:62190890-62190891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7698359	chr4:62190922-62190923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540305841	chr4:62190945-62190946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546290678	chr4:62190961-62190962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372507613	chr4:62190962-62190963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573774191	chr4:62190969-62190970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535114028	chr4:62191007-62191008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377756276	chr4:62191027-62191028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200445587	chr4:62191028-62191029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386675069	chr4:62191035-62191036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34019701	chr4:62191051-62191052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138952935	chr4:62191064-62191065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77701189	chr4:62191065-62191066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184372421	chr4:62191069-62191070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370523982	chr4:62191073-62191074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552577539	chr4:62191079-62191080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116897554	chr4:62191096-62191097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528611825	chr4:62191145-62191146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564574247	chr4:62191168-62191169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189216236	chr4:62191218-62191219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553760751	chr4:62191245-62191246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568609792	chr4:62191252-62191253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536000681	chr4:62191253-62191254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575621373	chr4:62191304-62191305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576461697	chr4:62191314-62191315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181972651	chr4:62191343-62191344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569175817	chr4:62191380-62191381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539720239	chr4:62191394-62191395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572351487	chr4:62191399-62191400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542970735	chr4:62191439-62191440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572784571	chr4:62191476-62191477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533694187	chr4:62191497-62191498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116743056	chr4:62191580-62191581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557892674	chr4:62191602-62191603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543441618	chr4:62191606-62191607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186016596	chr4:62191663-62191664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544385344	chr4:62191682-62191683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114406879	chr4:62191685-62191686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375390425	chr4:62191791-62191792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190934207	chr4:62191828-62191829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578021121	chr4:62191852-62191853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374346711	chr4:62191870-62191871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 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

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