Variant report

Variant	nsv966531
Chromosome Location	chr4:95901344-95906070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs566509267	chr4:95901352-95901353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535504358	chr4:95901371-95901372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555432084	chr4:95901404-95901405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563478461	chr4:95901419-95901420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376738341	chr4:95901423-95901424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116259222	chr4:95901469-95901470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191986338	chr4:95901480-95901481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17343504	chr4:95901481-95901482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374374618	chr4:95901531-95901532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540141056	chr4:95901541-95901542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141393825	chr4:95901598-95901599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183062499	chr4:95901601-95901602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573672813	chr4:95901608-95901609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141196339	chr4:95901612-95901613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543274475	chr4:95901619-95901620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368418174	chr4:95901662-95901663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78079763	chr4:95901756-95901757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544758778	chr4:95901758-95901759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564508847	chr4:95901770-95901771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533605447	chr4:95901792-95901793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1444923	chr4:95901833-95901834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114380091	chr4:95901908-95901909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529209563	chr4:95901912-95901913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187444551	chr4:95901924-95901925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568983958	chr4:95901928-95901929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571675965	chr4:95901929-95901930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191953515	chr4:95902003-95902004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571332046	chr4:95902028-95902029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534039508	chr4:95902030-95902031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554096939	chr4:95902061-95902062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184286487	chr4:95902106-95902107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188104657	chr4:95902109-95902110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556214918	chr4:95902131-95902132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201885494	chr4:95902143-95902144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200397688	chr4:95902154-95902155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6148577	chr4:95902155-95902156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72671247	chr4:95902156-95902157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376066035	chr4:95902158-95902159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576023427	chr4:95902173-95902174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544757759	chr4:95902175-95902176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34135956	chr4:95902177-95902178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547595730	chr4:95902199-95902200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578105337	chr4:95902230-95902231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540831256	chr4:95902252-95902253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139200129	chr4:95902257-95902258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529566938	chr4:95902262-95902263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78076135	chr4:95902271-95902272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192911863	chr4:95902316-95902317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200733703	chr4:95902361-95902362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs33948405	chr4:95902362-95902363	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
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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95894200-95904800	Weak transcription	Aorta	Aorta
2	chr4:95896400-95901400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:95900000-95901600	Enhancers	Fetal Brain Male	brain
4	chr4:95900000-95902000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:95901000-95901800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:95901000-95901800	Enhancers	Fetal Brain Female	brain
7	chr4:95901000-95902800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:95901400-95901800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:95901400-95902800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:95902000-95902400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:95902400-95903200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:95902800-95903400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:95903000-95903200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:95903200-95905000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:95903400-95905200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:95904800-95905000	Enhancers	Aorta	Aorta
17	chr4:95905200-95905400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:95905200-95905400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:95905800-95906400	Enhancers	Thymus	Thymus
20	chr4:95905800-95906800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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