Variant report

Variant	nsv1013180
Chromosome Location	chr4:93812587-93875433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:
2	chr4:93757984..93759775-chr4:93817140..93819795,2	MCF-7	breast:
3	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
4	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:
5	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
6	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
7	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:

Extended variants
information (count: 962 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530160781	chr4:93818044-93818045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543474451	chr4:93818050-93818051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373363532	chr4:93818051-93818052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528531684	chr4:93818054-93818055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111923802	chr4:93818079-93818080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557863672	chr4:93818093-93818094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551724744	chr4:93818115-93818116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565173259	chr4:93818133-93818134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527521871	chr4:93818144-93818145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547575547	chr4:93818145-93818146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62311171	chr4:93818147-93818148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567254487	chr4:93818185-93818186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536320335	chr4:93818198-93818199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561787997	chr4:93818370-93818371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11407081	chr4:93818390-93818391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397726908	chr4:93818394-93818395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs202053459	chr4:93818395-93818396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549530642	chr4:93818403-93818404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569667850	chr4:93818422-93818423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181490945	chr4:93818481-93818482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572398041	chr4:93818492-93818493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534890271	chr4:93818520-93818521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555115643	chr4:93818549-93818550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574851527	chr4:93818562-93818563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564591313	chr4:93818581-93818582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563606967	chr4:93818582-93818583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183852304	chr4:93821809-93821810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187780776	chr4:93821817-93821818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375891988	chr4:93821845-93821846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192445895	chr4:93821846-93821847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185056171	chr4:93821855-93821856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373268812	chr4:93821875-93821876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34089162	chr4:93821985-93821986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144047878	chr4:93822010-93822011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544220554	chr4:93822024-93822025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6818303	chr4:93822050-93822051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs368627782	chr4:93822087-93822088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375755928	chr4:93822088-93822089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70942936	chr4:93822100-93822101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201848305	chr4:93822101-93822102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189041284	chr4:93822182-93822183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566991639	chr4:93822199-93822200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547238649	chr4:93822213-93822214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560554790	chr4:93822226-93822227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529466788	chr4:93822244-93822245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150224478	chr4:93822282-93822283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569322751	chr4:93822303-93822304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537861151	chr4:93822313-93822314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551313927	chr4:93822324-93822325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369752457	chr4:93822347-93822348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Chronic lymphocytic leukemia	18922857	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
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
Williams Syndrome	20824207	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93818000-93818600	Enhancers	Liver	Liver
2	chr4:93821800-93822200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:93822200-93823200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:93823200-93823800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:93827400-93827800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:93827800-93829000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:93843200-93843600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:93843600-93845800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:93845600-93846400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:93845600-93846600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:93845600-93846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:93845600-93846600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:93845600-93846800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:93845800-93846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:93845800-93846200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr4:93845800-93846200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:93845800-93846400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:93845800-93846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:93852000-93852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:93864200-93866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:93864400-93874200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:93865400-93865800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:93871200-93883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:93871400-93883200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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