Variant report

Variant	nsv964718
Chromosome Location	chr4:62854394-62859644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191855827	chr4:62854414-62854415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs57424257	chr4:62854487-62854488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564052627	chr4:62854490-62854491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35917922	chr4:62854513-62854514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539856362	chr4:62854589-62854590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184758442	chr4:62854604-62854605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565427121	chr4:62854620-62854621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529153780	chr4:62854626-62854627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550647452	chr4:62854716-62854717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370251465	chr4:62854747-62854748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569117754	chr4:62854801-62854802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190362285	chr4:62854830-62854831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563678177	chr4:62854928-62854929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73823289	chr4:62854969-62854970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570973689	chr4:62854987-62854988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368065128	chr4:62855074-62855075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535082369	chr4:62855121-62855122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553407899	chr4:62855145-62855146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568517371	chr4:62855158-62855159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577300374	chr4:62855185-62855186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535842345	chr4:62855189-62855190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557400860	chr4:62855210-62855211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575869805	chr4:62855240-62855241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544629665	chr4:62855247-62855248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72640011	chr4:62855283-62855284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558294571	chr4:62855288-62855289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181511570	chr4:62855382-62855383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73222029	chr4:62855460-62855461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529965751	chr4:62855532-62855533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548195773	chr4:62855538-62855539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138684818	chr4:62855565-62855566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187502729	chr4:62855661-62855662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562662551	chr4:62855686-62855687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371953491	chr4:62855699-62855700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533222127	chr4:62855785-62855786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551298407	chr4:62855792-62855793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566625014	chr4:62855806-62855807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115743695	chr4:62855808-62855809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13434959	chr4:62855833-62855834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74749582	chr4:62855887-62855888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190191264	chr4:62855918-62855919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180906270	chr4:62855970-62855971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567302112	chr4:62855989-62855990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569464361	chr4:62856016-62856017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141213660	chr4:62856050-62856051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557931711	chr4:62856054-62856055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573147882	chr4:62856085-62856086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72640012	chr4:62856113-62856114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555071652	chr4:62856114-62856115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185468374	chr4:62856129-62856130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62824600-62877400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:62836800-62854800	Weak transcription	Fetal Kidney	kidney
3	chr4:62841200-62867000	Weak transcription	Aorta	Aorta
4	chr4:62843800-62859400	Weak transcription	Brain Anterior Caudate	brain
5	chr4:62845000-62858000	Weak transcription	Fetal Brain Male	brain
6	chr4:62846000-62859000	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:62846400-62857800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:62846800-62862600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:62848800-62856600	Weak transcription	Fetal Brain Female	brain
10	chr4:62850600-62877000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:62850800-62862000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:62857800-62858200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:62857800-62858200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:62857800-62858600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:62857800-62858600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:62857800-62858800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:62857800-62859600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:62858000-62858200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:62858000-62858200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr4:62858000-62858200	Enhancers	Fetal Brain Female	brain
21	chr4:62858000-62858400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:62858000-62859000	Enhancers	Fetal Brain Male	brain
23	chr4:62858200-62858400	Enhancers	Ovary	ovary
24	chr4:62858400-62859200	Weak transcription	Ovary	ovary
25	chr4:62858400-62859400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:62859000-62859200	Enhancers	Fetal Muscle Leg	muscle
27	chr4:62859200-62860200	Enhancers	Ovary	ovary
28	chr4:62859200-62872800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:62859400-62859600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:62859400-62859600	Enhancers	Brain Anterior Caudate	brain
31	chr4:62859400-62860000	Enhancers	Brain Hippocampus Middle	brain
32	chr4:62859600-62869200	Weak transcription	Brain Anterior Caudate	brain
33	chr4:62859600-62870600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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