Variant report

Variant	nsv516164
Chromosome Location	chr4:92906792-92930924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:56736322..56736880-chr4:92908655..92909344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13148117	chr4:92908698-92908699	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370560040	chr4:92908757-92908758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34338191	chr4:92908760-92908761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187349531	chr4:92908786-92908787	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551701907	chr4:92908795-92908796	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566901549	chr4:92908870-92908871	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568384894	chr4:92908901-92908902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557066622	chr4:92908964-92908965	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs577231307	chr4:92909005-92909006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs193193084	chr4:92909026-92909027	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534413413	chr4:92909099-92909100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184679244	chr4:92909116-92909117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572258474	chr4:92909141-92909142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs541375262	chr4:92909147-92909148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543020996	chr4:92909195-92909196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561148394	chr4:92909206-92909207	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552757807	chr4:92909217-92909218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13125360	chr4:92909231-92909232	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189951784	chr4:92909307-92909308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563262176	chr4:92909315-92909316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572574320	chr4:92911019-92911020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542020538	chr4:92911072-92911073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561760582	chr4:92911084-92911085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529330017	chr4:92911086-92911087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561903885	chr4:92911116-92911117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74460416	chr4:92911120-92911121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145605270	chr4:92911135-92911136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114092448	chr4:92911136-92911137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28396167	chr4:92911241-92911242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191520596	chr4:92911247-92911248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113580091	chr4:92911366-92911367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182097444	chr4:92911422-92911423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186247214	chr4:92911427-92911428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7695964	chr4:92911433-92911434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536824365	chr4:92911499-92911500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550885235	chr4:92911510-92911511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551616884	chr4:92911513-92911514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146987629	chr4:92911518-92911519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374410566	chr4:92911519-92911520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539438881	chr4:92911620-92911621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28830009	chr4:92911634-92911635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191490365	chr4:92911704-92911705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77032036	chr4:92911733-92911734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527853000	chr4:92911740-92911741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77086686	chr4:92911759-92911760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555038069	chr4:92911779-92911780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575820681	chr4:92911791-92911792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77066733	chr4:92911823-92911824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74579830	chr4:92911824-92911825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544447466	chr4:92911847-92911848	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92911000-92912000	Enhancers	Stomach Mucosa	stomach
2	chr4:92923000-92923600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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