Variant report

Variant	nsv594864
Chromosome Location	chr4:92429961-92483806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 617 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:617 , 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	rs541541774	chr4:92432404-92432405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs186995433	chr4:92432420-92432421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150114045	chr4:92432522-92432523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs192251845	chr4:92432538-92432539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs367584416	chr4:92432586-92432587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs544179071	chr4:92432600-92432601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs76650885	chr4:92432608-92432609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138823415	chr4:92432641-92432642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370908774	chr4:92432644-92432645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs533261498	chr4:92432668-92432669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185329975	chr4:92432683-92432684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs560396542	chr4:92432688-92432689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs529064275	chr4:92432703-92432704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374376246	chr4:92432720-92432721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs145482044	chr4:92432730-92432731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562985629	chr4:92432820-92432821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374233683	chr4:92432892-92432893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551750139	chr4:92432949-92432950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571261077	chr4:92432955-92432956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534234893	chr4:92433017-92433018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376460873	chr4:92433053-92433054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112851198	chr4:92433092-92433093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547653452	chr4:92433093-92433094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79167671	chr4:92433102-92433103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536834028	chr4:92433120-92433121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555203173	chr4:92433154-92433155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80346170	chr4:92433164-92433165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537487708	chr4:92433187-92433188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148820567	chr4:92433212-92433213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565187263	chr4:92433222-92433223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78098638	chr4:92433225-92433226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188193888	chr4:92433246-92433247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560458436	chr4:92433248-92433249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143618932	chr4:92433268-92433269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569764900	chr4:92433310-92433311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370805705	chr4:92433311-92433312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542799416	chr4:92433355-92433356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546040535	chr4:92433364-92433365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531835723	chr4:92433367-92433368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551543303	chr4:92433375-92433376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564955527	chr4:92433411-92433412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193277854	chr4:92433424-92433425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537521063	chr4:92433428-92433429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547713903	chr4:92433484-92433485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185429659	chr4:92433573-92433574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536484952	chr4:92433623-92433624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550343607	chr4:92433624-92433625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556288928	chr4:92433627-92433628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111555304	chr4:92433653-92433654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570100710	chr4:92433657-92433658	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
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	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92432400-92432800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:92432800-92439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:92439600-92440000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:92439800-92440000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:92440000-92440200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:92440200-92443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:92446200-92446600	Enhancers	Fetal Intestine Large	intestine
8	chr4:92446200-92446600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr4:92446600-92447000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:92446600-92447000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:92446600-92447000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:92446600-92447000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:92459600-92460200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:92480000-92487000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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