Variant report

Variant	nsv511254
Chromosome Location	chr4:186972741-186979699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 315 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:315 , 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	rs7691384	chr4:186972741-186972742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116250234	chr4:186972742-186972743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139698368	chr4:186972777-186972778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191860616	chr4:186972778-186972779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535214369	chr4:186972845-186972846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114609507	chr4:186972858-186972859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542459338	chr4:186972886-186972887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536651013	chr4:186972901-186972902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550515493	chr4:186972905-186972906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs578035360	chr4:186972915-186972916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182870791	chr4:186972929-186972930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557363376	chr4:186972936-186972937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576420304	chr4:186972937-186972938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542105300	chr4:186972942-186972943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367649428	chr4:186972947-186972948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187548540	chr4:186972958-186972959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541211357	chr4:186972972-186972973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564062794	chr4:186972983-186972984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533026952	chr4:186972995-186972996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149758793	chr4:186972999-186973000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144756529	chr4:186973034-186973035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529544423	chr4:186973071-186973072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28495666	chr4:186973081-186973082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193245594	chr4:186973103-186973104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112403193	chr4:186973201-186973202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114250789	chr4:186973204-186973205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371744820	chr4:186973205-186973206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537518569	chr4:186973230-186973231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557399927	chr4:186973276-186973277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574036544	chr4:186973284-186973285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72705068	chr4:186973285-186973286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs369569462	chr4:186973345-186973346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185744988	chr4:186973353-186973354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572289929	chr4:186973361-186973362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189371086	chr4:186973368-186973369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116935181	chr4:186973375-186973376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192191411	chr4:186973426-186973427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560703755	chr4:186973429-186973430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34364932	chr4:186973453-186973454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35188247	chr4:186973501-186973502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373869860	chr4:186973551-186973552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548552398	chr4:186973570-186973571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76785461	chr4:186973602-186973603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6856027	chr4:186973638-186973639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145262217	chr4:186973699-186973700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6830874	chr4:186973703-186973704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74764742	chr4:186973763-186973764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183692252	chr4:186973797-186973798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77052900	chr4:186973809-186973810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62334688	chr4:186973811-186973812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Metanephric adenoma	20802469	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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17086460	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186972600-186980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:186979200-186979400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr4:186979200-186979400	Enhancers	Spleen	Spleen
4	chr4:186979200-186980200	Enhancers	Primary B cells from cord blood	blood
5	chr4:186979200-186980800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:186979400-186980200	Enhancers	GM12878-XiMat	blood
7	chr4:186979400-186980400	Enhancers	Primary B cells from peripheral blood	blood
8	chr4:186979400-186980400	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:186979600-186980200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:186979600-186980200	Enhancers	Monocytes-CD14+_RO01746	blood

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