Variant report

Variant	nsv879593
Chromosome Location	chr4:92664701-92691639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 349 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4290865	chr4:92664701-92664702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372886049	chr4:92664712-92664713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60693432	chr4:92664714-92664715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565208159	chr4:92664726-92664727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144581051	chr4:92664732-92664733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564485350	chr4:92664760-92664761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35113240	chr4:92664765-92664766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182136442	chr4:92664767-92664768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187216591	chr4:92664817-92664818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569076597	chr4:92664832-92664833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377097616	chr4:92664853-92664854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555629993	chr4:92664884-92664885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10018155	chr4:92664886-92664887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs544177306	chr4:92664925-92664926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557358654	chr4:92664944-92664945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531901207	chr4:92664990-92664991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539908531	chr4:92665089-92665090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559825132	chr4:92665094-92665095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551908854	chr4:92665099-92665100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10018264	chr4:92665111-92665112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537005771	chr4:92665121-92665122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377726135	chr4:92665123-92665124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542892136	chr4:92665185-92665186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563179853	chr4:92665200-92665201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550181129	chr4:92665252-92665253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115131899	chr4:92665260-92665261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534168235	chr4:92665274-92665275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142590665	chr4:92665287-92665288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112768903	chr4:92665317-92665318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527694613	chr4:92665422-92665423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547862365	chr4:92665522-92665523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28836302	chr4:92665601-92665602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190838070	chr4:92665620-92665621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548943165	chr4:92665621-92665622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151276216	chr4:92665646-92665647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537722848	chr4:92665647-92665648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557647079	chr4:92665651-92665652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577177693	chr4:92665654-92665655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182156401	chr4:92665668-92665669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553441981	chr4:92665692-92665693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560532866	chr4:92665702-92665703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112492524	chr4:92665716-92665717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543182991	chr4:92665805-92665806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567859304	chr4:92665849-92665850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187264491	chr4:92665857-92665858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190171787	chr4:92665863-92665864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576591748	chr4:92665864-92665865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183168924	chr4:92665939-92665940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565578712	chr4:92665994-92665995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538570229	chr4:92666024-92666025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92662400-92667800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:92666200-92666400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:92666400-92667600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:92667600-92667800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:92667800-92668200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:92668200-92668400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:92676400-92677400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:92677000-92678200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:92677400-92679200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:92677800-92680600	Enhancers	HUVEC	blood vessel
11	chr4:92678200-92679800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:92679000-92680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:92679200-92680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:92679600-92680200	Enhancers	NH-A	brain
15	chr4:92679800-92680200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:92679800-92680200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:92680000-92680400	Enhancers	Hela-S3	cervix
18	chr4:92680200-92680600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:92686200-92686800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:92686400-92687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:92686600-92687000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:92686800-92687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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