Variant report

Variant	nsv964006
Chromosome Location	chr4:166487853-166491470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1914833	chr4:166487927-166487928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535345496	chr4:166487929-166487930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557145801	chr4:166487930-166487931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575340951	chr4:166487994-166487995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539933642	chr4:166488016-166488017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6855033	chr4:166488036-166488037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs59397196	chr4:166488100-166488101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377117427	chr4:166488104-166488105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180961603	chr4:166488119-166488120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562048721	chr4:166488136-166488137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574414147	chr4:166488197-166488198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10016914	chr4:166488206-166488207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563138953	chr4:166488214-166488215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185368610	chr4:166488300-166488301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552251917	chr4:166488324-166488325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10017098	chr4:166488400-166488401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374891527	chr4:166488405-166488406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34752855	chr4:166488407-166488408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555628512	chr4:166488418-166488419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191518850	chr4:166488419-166488420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546220743	chr4:166488432-166488433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541508128	chr4:166488447-166488448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183306897	chr4:166488452-166488453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75749224	chr4:166488509-166488510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572288989	chr4:166488513-166488514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67582214	chr4:166488532-166488533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529117923	chr4:166488533-166488534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139913000	chr4:166488607-166488608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10017297	chr4:166488615-166488616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533212778	chr4:166488710-166488711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573411596	chr4:166488740-166488741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534263927	chr4:166488747-166488748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373722941	chr4:166488749-166488750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145348015	chr4:166488770-166488771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574075082	chr4:166488781-166488782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147702706	chr4:166488802-166488803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79713792	chr4:166488807-166488808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs939078	chr4:166488875-166488876	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545237362	chr4:166488878-166488879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373928379	chr4:166488954-166488955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570884102	chr4:166488966-166488967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150507584	chr4:166488987-166488988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs58023729	chr4:166488988-166488989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142452070	chr4:166489023-166489024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78230507	chr4:166489034-166489035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188703289	chr4:166489054-166489055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1320227	chr4:166489134-166489135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1320226	chr4:166489166-166489167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142316508	chr4:166489175-166489176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34552614	chr4:166489201-166489202	Weak transcription	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
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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	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
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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166485600-166488600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:166488600-166489000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:166489000-166500800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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