Variant report

Variant	nsv522200
Chromosome Location	chr4:30524108-30536779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 247 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550990325	chr4:30525249-30525250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141525440	chr4:30525254-30525255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141937011	chr4:30525255-30525256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201891305	chr4:30525263-30525264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200063491	chr4:30525265-30525266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184189741	chr4:30525270-30525271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533682113	chr4:30525275-30525276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114274024	chr4:30525296-30525297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374648642	chr4:30525380-30525381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567128739	chr4:30525387-30525388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538118108	chr4:30525388-30525389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78279039	chr4:30525389-30525390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557147368	chr4:30525453-30525454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577905743	chr4:30525494-30525495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75842046	chr4:30525514-30525515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151075571	chr4:30525590-30525591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111777526	chr4:30525623-30525624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140249404	chr4:30525630-30525631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181785916	chr4:30525631-30525632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576576553	chr4:30525638-30525639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10033919	chr4:30525668-30525669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565418704	chr4:30525733-30525734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73228255	chr4:30525736-30525737	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550953596	chr4:30525737-30525738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73111817	chr4:30525740-30525741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529005667	chr4:30525755-30525756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527341134	chr4:30525780-30525781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548692076	chr4:30525858-30525859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548964324	chr4:30525865-30525866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572316815	chr4:30525887-30525888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138067277	chr4:30525905-30525906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73228256	chr4:30525932-30525933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184619382	chr4:30525941-30525942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189453945	chr4:30526035-30526036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574302259	chr4:30526044-30526045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375578071	chr4:30526119-30526120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3047356	chr4:30526120-30526121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34534548	chr4:30526121-30526122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543357514	chr4:30526159-30526160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397836655	chr4:30526160-30526161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117312227	chr4:30526181-30526182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369963962	chr4:30526187-30526188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55838052	chr4:30526189-30526190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572493993	chr4:30526227-30526228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536708437	chr4:30526241-30526242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555083647	chr4:30526364-30526365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76897531	chr4:30526371-30526372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142683430	chr4:30526390-30526391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144911335	chr4:30526391-30526392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138525056	chr4:30526438-30526439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30525200-30526400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:30526400-30527600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:30527200-30527800	Enhancers	Adipose Nuclei	Adipose
4	chr4:30527200-30528000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:30527600-30528200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:30528200-30528400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:30528400-30530400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:30530000-30530400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:30530000-30530600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:30530200-30530400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:30530400-30530600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:30536600-30537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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