Variant report

Variant	nsv980144
Chromosome Location	chr4:97282410-97285830
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	chr4:97174563..97176732-chr4:97282381..97284958,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536512859	chr4:97282418-97282419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542790566	chr4:97282441-97282442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188511995	chr4:97282492-97282493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374728715	chr4:97282501-97282502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576474634	chr4:97282536-97282537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193085729	chr4:97282538-97282539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549780894	chr4:97282550-97282551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565135432	chr4:97282571-97282572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527642010	chr4:97282582-97282583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541375487	chr4:97282586-97282587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561160883	chr4:97282624-97282625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529945692	chr4:97282674-97282675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555188442	chr4:97282676-97282677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141856209	chr4:97282721-97282722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563465969	chr4:97282781-97282782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184143153	chr4:97282916-97282917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570928932	chr4:97282944-97282945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532016808	chr4:97282977-97282978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57063610	chr4:97283005-97283006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188551675	chr4:97283035-97283036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546970246	chr4:97283057-97283058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565485670	chr4:97283177-97283178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534309903	chr4:97283213-97283214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547711609	chr4:97283225-97283226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567602825	chr4:97283229-97283230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202247678	chr4:97283258-97283259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536512879	chr4:97283313-97283314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191508910	chr4:97283314-97283315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148058063	chr4:97283374-97283375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141655856	chr4:97283403-97283404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566239330	chr4:97283437-97283438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572394359	chr4:97283438-97283439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570121079	chr4:97283450-97283451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150504566	chr4:97283464-97283465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376746940	chr4:97283561-97283562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4619895	chr4:97283600-97283601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183703778	chr4:97283639-97283640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139535533	chr4:97283686-97283687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189377082	chr4:97283704-97283705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182272858	chr4:97283731-97283732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144273171	chr4:97283749-97283750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552028093	chr4:97283815-97283816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201257461	chr4:97283840-97283841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187363582	chr4:97283886-97283887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559397585	chr4:97283889-97283890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190177218	chr4:97283920-97283921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577591227	chr4:97284003-97284004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181608865	chr4:97284022-97284023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7682919	chr4:97284027-97284028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57911736	chr4:97284092-97284093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97274000-97284600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:97284600-97285000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:97285000-97287800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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