Variant report

Variant	nsv980458
Chromosome Location	chr4:91639363-91644810
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	chr4:91643291..91645856-chr4:91647962..91650916,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185533589	chr4:91640208-91640209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566043069	chr4:91640209-91640210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368635278	chr4:91640217-91640218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577488308	chr4:91640220-91640221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554886416	chr4:91640244-91640245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542568895	chr4:91640285-91640286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386677199	chr4:91640293-91640294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146034135	chr4:91640294-91640295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116637049	chr4:91640298-91640299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114359188	chr4:91640299-91640300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544682775	chr4:91640300-91640301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564860403	chr4:91640301-91640302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527412492	chr4:91640344-91640345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531656127	chr4:91640346-91640347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189239932	chr4:91640372-91640373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374144987	chr4:91640379-91640380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550139950	chr4:91640392-91640393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564140431	chr4:91643806-91643807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532777952	chr4:91643819-91643820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546724837	chr4:91643821-91643822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566234992	chr4:91643884-91643885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147905775	chr4:91643896-91643897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548782985	chr4:91643897-91643898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568684232	chr4:91643899-91643900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17017458	chr4:91643922-91643923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557752479	chr4:91643928-91643929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139925152	chr4:91644044-91644045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533943398	chr4:91644045-91644046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62314446	chr4:91644049-91644050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17017459	chr4:91644155-91644156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17017461	chr4:91644263-91644264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556822284	chr4:91644282-91644283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182314199	chr4:91644293-91644294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369769338	chr4:91644307-91644308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78126427	chr4:91644311-91644312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555997029	chr4:91644317-91644318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565439066	chr4:91644328-91644329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74786514	chr4:91644339-91644340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539859101	chr4:91644416-91644417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370347900	chr4:91644443-91644444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186624313	chr4:91644475-91644476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536092114	chr4:91644538-91644539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548646942	chr4:91644621-91644622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528666447	chr4:91644624-91644625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374344078	chr4:91644635-91644636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531395753	chr4:91644679-91644680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551507237	chr4:91644703-91644704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571460345	chr4:91644715-91644716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9790424	chr4:91644724-91644725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554228186	chr4:91644748-91644749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Multiple myeloma	17550852	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
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91640200-91640400	Enhancers	Pancreas	Pancrea
2	chr4:91643800-91644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:91643800-91646200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:91644000-91644400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:91644000-91644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:91644200-91644600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:91644200-91649200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:91644400-91645600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:91644600-91644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:91644600-91648600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:91644800-91648600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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