Variant report

Variant	nsv818264
Chromosome Location	chr4:118187265-118215853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537045832	chr4:118188224-118188225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540490230	chr4:118188230-118188231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560773570	chr4:118188236-118188237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187598678	chr4:118188245-118188246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556722600	chr4:118188256-118188257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549316235	chr4:118188273-118188274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561340866	chr4:118188274-118188275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577051381	chr4:118188280-118188281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10023738	chr4:118188290-118188291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377281242	chr4:118188305-118188306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533994166	chr4:118188322-118188323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191706757	chr4:118188324-118188325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184000264	chr4:118188332-118188333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570914491	chr4:118188369-118188370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373577084	chr4:118188414-118188415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188939177	chr4:118188418-118188419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192708996	chr4:118188484-118188485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555738714	chr4:118188485-118188486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575667289	chr4:118188530-118188531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76634328	chr4:118188562-118188563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113232242	chr4:118188563-118188564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57651596	chr4:118188648-118188649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182211670	chr4:118188668-118188669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141970100	chr4:118188692-118188693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540751276	chr4:118188726-118188727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560520773	chr4:118188754-118188755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189216912	chr4:118206007-118206008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139462807	chr4:118206069-118206070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192293878	chr4:118206078-118206079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201692018	chr4:118206082-118206083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552177880	chr4:118206105-118206106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182852838	chr4:118206181-118206182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144207801	chr4:118206217-118206218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186849429	chr4:118206259-118206260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548817847	chr4:118206269-118206270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542128321	chr4:118206310-118206311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4834609	chr4:118206368-118206369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191782799	chr4:118206388-118206389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542995291	chr4:118206412-118206413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562994498	chr4:118206413-118206414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537641135	chr4:118206430-118206431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184101134	chr4:118206447-118206448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551866263	chr4:118206459-118206460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531519975	chr4:118206490-118206491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7674371	chr4:118206506-118206507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56221428	chr4:118206521-118206522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542747967	chr4:118206526-118206527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147368471	chr4:118206534-118206535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548151645	chr4:118206549-118206550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138291327	chr4:118206552-118206553	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118188200-118188800	Enhancers	GM12878-XiMat	blood
2	chr4:118206000-118206800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:118206200-118206800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr4:118206400-118206800	Enhancers	Brain Hippocampus Middle	brain

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