Variant report

Variant	nsv1008213
Chromosome Location	chr4:93829603-93875433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:93825096..93827296-chr4:93828128..93830318,2	K562	blood:
2	chr4:93827426..93829042-chr4:93829198..93830745,2	K562	blood:
3	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:
4	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:

Extended variants
information (count: 799 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192522664	chr4:93843203-93843204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185508993	chr4:93843225-93843226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs377017422	chr4:93843250-93843251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574375319	chr4:93843274-93843275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552956449	chr4:93843275-93843276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190434137	chr4:93843299-93843300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs181504327	chr4:93843303-93843304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577642075	chr4:93843308-93843309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs546507210	chr4:93843316-93843317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs114459910	chr4:93843317-93843318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs116506862	chr4:93843327-93843328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542312614	chr4:93843330-93843331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs557201246	chr4:93843338-93843339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562001779	chr4:93843360-93843361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs144739213	chr4:93843361-93843362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544170668	chr4:93843365-93843366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115991691	chr4:93843371-93843372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs532307444	chr4:93843374-93843375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs552041291	chr4:93843376-93843377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201914623	chr4:93843392-93843393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373259975	chr4:93843393-93843394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184444603	chr4:93843398-93843399	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148442592	chr4:93843399-93843400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs548274733	chr4:93843402-93843403	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs199713179	chr4:93843411-93843412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs189199755	chr4:93843439-93843440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181227770	chr4:93843447-93843448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186523320	chr4:93843450-93843451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs570455031	chr4:93843456-93843457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs540182681	chr4:93843470-93843471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141732492	chr4:93843472-93843473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190847144	chr4:93843480-93843481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs150572449	chr4:93843518-93843519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555850078	chr4:93843523-93843524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs140591933	chr4:93843530-93843531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575676195	chr4:93843540-93843541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs180894429	chr4:93843544-93843545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572955228	chr4:93843554-93843555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79153147	chr4:93843579-93843580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144544372	chr4:93843581-93843582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545694808	chr4:93843585-93843586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559343323	chr4:93843586-93843587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs376943253	chr4:93843590-93843591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs548114335	chr4:93843613-93843614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568231774	chr4:93843629-93843630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530561532	chr4:93843642-93843643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113662137	chr4:93843648-93843649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139471226	chr4:93843713-93843714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539401412	chr4:93843737-93843738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149893796	chr4:93843740-93843741	Weak transcription	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93843200-93843600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:93843600-93845800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:93845600-93846400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:93845600-93846600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:93845600-93846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:93845600-93846600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:93845600-93846800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:93845800-93846200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:93845800-93846200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr4:93845800-93846200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:93845800-93846400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:93845800-93846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:93852000-93852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:93864200-93866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:93864400-93874200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:93865400-93865800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:93871200-93883400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:93871400-93883200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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