Variant report

Variant	nsv966242
Chromosome Location	chr4:188040817-188043812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77458231	chr4:188040844-188040845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs546340866	chr4:188040870-188040871	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4861741	chr4:188040879-188040880	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576790211	chr4:188040894-188040895	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569118736	chr4:188040920-188040921	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs561661008	chr4:188040933-188040934	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184958660	chr4:188040954-188040955	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs386683610	chr4:188040966-188040967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190105682	chr4:188040967-188040968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532997111	chr4:188040972-188040973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549920265	chr4:188041020-188041021	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536403328	chr4:188041021-188041022	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114795510	chr4:188041023-188041024	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372499734	chr4:188041036-188041037	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548223337	chr4:188041044-188041045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4862774	chr4:188041074-188041075	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs533890386	chr4:188041092-188041093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553986954	chr4:188041093-188041094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570893279	chr4:188041104-188041105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370772991	chr4:188041117-188041118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs539675806	chr4:188041123-188041124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556705078	chr4:188041127-188041128	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs576851112	chr4:188041135-188041136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141373833	chr4:188041173-188041174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34853514	chr4:188041179-188041180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556051149	chr4:188041181-188041182	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549578247	chr4:188042696-188042697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566415948	chr4:188042704-188042705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575199590	chr4:188042745-188042746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187887790	chr4:188042775-188042776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558120210	chr4:188042800-188042801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148923204	chr4:188042808-188042809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143666590	chr4:188042819-188042820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148050646	chr4:188042821-188042822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573376918	chr4:188042843-188042844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529169585	chr4:188042860-188042861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542444970	chr4:188042874-188042875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs193188418	chr4:188042886-188042887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9790585	chr4:188042923-188042924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368501223	chr4:188042955-188042956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185034168	chr4:188043006-188043007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114724179	chr4:188043082-188043083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550172985	chr4:188043087-188043088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563801419	chr4:188043088-188043089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143737726	chr4:188043096-188043097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549644037	chr4:188043150-188043151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189399364	chr4:188043172-188043173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143735752	chr4:188043179-188043180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371827616	chr4:188043186-188043187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147179866	chr4:188043206-188043207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188040200-188041200	Active TSS	NH-A	brain
2	chr4:188042600-188045400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:188043800-188044000	Enhancers	Fetal Lung	lung
4	chr4:188043800-188044000	Enhancers	Fetal Muscle Trunk	muscle
5	chr4:188043800-188044000	Enhancers	Fetal Muscle Leg	muscle

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