Variant report

Variant	nsv437404
Chromosome Location	chr4:91914415-91941029
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	chr4:91938775..91940847-chr4:91941270..91944151,2	K562	blood:
2	chr4:91905983..91908591-chr4:91914277..91915974,2	MCF-7	breast:

Extended variants
information (count: 479 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7692162	chr4:91914415-91914416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535029908	chr4:91914447-91914448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555103424	chr4:91914522-91914523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575088846	chr4:91914535-91914536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144523269	chr4:91914564-91914565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191440094	chr4:91914594-91914595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183576957	chr4:91914611-91914612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150700987	chr4:91914614-91914615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563426043	chr4:91914626-91914627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545014229	chr4:91914665-91914666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147421428	chr4:91914684-91914685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139746589	chr4:91914694-91914695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188643995	chr4:91914726-91914727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149938017	chr4:91914747-91914748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529888914	chr4:91914774-91914775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570741330	chr4:91914804-91914805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549855976	chr4:91914827-91914828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539967307	chr4:91914874-91914875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2169367	chr4:91914879-91914880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2126217	chr4:91914948-91914949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1461600	chr4:91914972-91914973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565956628	chr4:91914981-91914982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144997656	chr4:91915002-91915003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555347217	chr4:91915024-91915025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17017919	chr4:91915087-91915088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181260000	chr4:91915188-91915189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556269577	chr4:91915203-91915204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74666614	chr4:91915220-91915221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566582781	chr4:91915226-91915227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111504620	chr4:91915234-91915235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371285838	chr4:91915327-91915328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72011497	chr4:91915340-91915341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386677215	chr4:91915341-91915342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60204074	chr4:91915345-91915346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201648497	chr4:91915348-91915349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200204838	chr4:91915365-91915366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397712006	chr4:91915372-91915373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547245799	chr4:91915402-91915403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13133635	chr4:91915420-91915421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369085660	chr4:91915476-91915477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373041984	chr4:91915550-91915551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371899021	chr4:91915581-91915582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571950649	chr4:91915589-91915590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373634958	chr4:91915618-91915619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71598439	chr4:91915636-91915637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148458882	chr4:91915646-91915647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183849499	chr4:91915666-91915667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529824593	chr4:91915671-91915672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543242312	chr4:91915700-91915701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563166352	chr4:91915723-91915724	Weak transcription	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
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91912000-91915800	Weak transcription	Fetal Heart	heart
2	chr4:91915800-91916200	Enhancers	Fetal Heart	heart
3	chr4:91915800-91916600	Enhancers	Colon Smooth Muscle	Colon
4	chr4:91916000-91916400	Enhancers	Fetal Kidney	kidney
5	chr4:91918200-91918400	Enhancers	Colon Smooth Muscle	Colon
6	chr4:91918200-91918600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:91924400-91924800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:91924600-91924800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:91925800-91930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:91928400-91928800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:91930000-91930400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:91930400-91932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:91932600-91933000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:91933600-91933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:91939400-91941000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:91939600-91941000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:91939600-91941000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:91940400-91941000	Enhancers	HUES64 Cell Line	embryonic stem cell

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