Variant report

Variant	esv3412800
Chromosome Location	chr4:97395929-97399027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557892313	chr4:97397234-97397235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs569926172	chr4:97397261-97397262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571426674	chr4:97397265-97397266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs145010216	chr4:97397302-97397303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138687393	chr4:97397311-97397312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573936235	chr4:97397338-97397339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75853710	chr4:97397344-97397345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149345692	chr4:97397376-97397377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189828647	chr4:97397410-97397411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs144746420	chr4:97397426-97397427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182099882	chr4:97397436-97397437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76734106	chr4:97397488-97397489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs552160626	chr4:97397519-97397520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533429534	chr4:97397532-97397533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs115756481	chr4:97397548-97397549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62316846	chr4:97397575-97397576	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148532909	chr4:97397583-97397584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143668417	chr4:97397602-97397603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569462304	chr4:97397606-97397607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532001362	chr4:97397613-97397614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186463597	chr4:97397629-97397630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116437998	chr4:97397653-97397654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534062228	chr4:97397682-97397683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147180967	chr4:97397712-97397713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs572541354	chr4:97397731-97397732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201211241	chr4:97397732-97397733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140634059	chr4:97397735-97397736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191845882	chr4:97397746-97397747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79334814	chr4:97397751-97397752	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183780584	chr4:97397806-97397807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372056806	chr4:97397808-97397809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574974300	chr4:97397825-97397826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368107316	chr4:97397835-97397836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs552107620	chr4:97397841-97397842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115897030	chr4:97397943-97397944	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs10001071	chr4:97397977-97397978	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541172110	chr4:97397989-97397990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs202070919	chr4:97397995-97397996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560966856	chr4:97398005-97398006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs373470308	chr4:97398007-97398008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188316079	chr4:97398023-97398024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192994860	chr4:97398036-97398037	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs144483847	chr4:97398080-97398081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs36051315	chr4:97398087-97398088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs200598582	chr4:97398093-97398094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182511101	chr4:97398095-97398096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs375548139	chr4:97398124-97398125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs115225388	chr4:97398132-97398133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575495400	chr4:97398141-97398142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545811288	chr4:97398150-97398151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97397200-97399600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:97398600-97399000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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