Variant report

Variant	nsv879560
Chromosome Location	chr4:91919028-91948999
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	chr4:91938775..91940847-chr4:91941270..91944151,2	K562	blood:

Extended variants
information (count: 607 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189343785	chr4:91924438-91924439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146236836	chr4:91924448-91924449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181330835	chr4:91924480-91924481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116032473	chr4:91924545-91924546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560332210	chr4:91924548-91924549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545336160	chr4:91924568-91924569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528126569	chr4:91924569-91924570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548310677	chr4:91924574-91924575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118129612	chr4:91924614-91924615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561514915	chr4:91924622-91924623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564111703	chr4:91924624-91924625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550578153	chr4:91924633-91924634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572476792	chr4:91924636-91924637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140102607	chr4:91924652-91924653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367785604	chr4:91924692-91924693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186335986	chr4:91924752-91924753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535951971	chr4:91924770-91924771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555870402	chr4:91924796-91924797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28524051	chr4:91924812-91924813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs76914501	chr4:91924834-91924835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75298778	chr4:91924864-91924865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111408346	chr4:91924887-91924888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540536306	chr4:91924890-91924891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111601102	chr4:91924898-91924899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373525870	chr4:91924922-91924923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573935259	chr4:91924925-91924926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143687158	chr4:91924947-91924948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146790353	chr4:91924988-91924989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376944593	chr4:91925023-91925024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529100137	chr4:91925052-91925053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139229691	chr4:91925064-91925065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369284784	chr4:91925069-91925070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564078677	chr4:91925077-91925078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114335457	chr4:91925085-91925086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10440322	chr4:91925115-91925116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs566662926	chr4:91925117-91925118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371573234	chr4:91925136-91925137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117416216	chr4:91925142-91925143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549188035	chr4:91925161-91925162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375775528	chr4:91925223-91925224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569308835	chr4:91925233-91925234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78856741	chr4:91925235-91925236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150068047	chr4:91925261-91925262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369498292	chr4:91925262-91925263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528581365	chr4:91925270-91925271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72884761	chr4:91925283-91925284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554077567	chr4:91925305-91925306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573871600	chr4:91925323-91925324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373996675	chr4:91925339-91925340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551359951	chr4:91925366-91925367	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91924400-91924800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:91924600-91924800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:91925800-91930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:91928400-91928800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:91930000-91930400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:91930400-91932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:91932600-91933000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:91933600-91933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:91939400-91941000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:91939600-91941000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:91939600-91941000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:91940400-91941000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:91941800-91948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:91946600-91947400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:91946600-91947400	Enhancers	Fetal Lung	lung
17	chr4:91947000-91947400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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