Variant report

Variant	esv3502393
Chromosome Location	chr4:133180152-133184000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574180246	chr4:133183040-133183041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372752404	chr4:133183066-133183067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542818517	chr4:133183090-133183091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559504633	chr4:133183100-133183101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563572667	chr4:133183113-133183114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577098589	chr4:133183162-133183163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76343828	chr4:133183176-133183177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143453925	chr4:133183220-133183221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540723708	chr4:133183282-133183283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546131640	chr4:133183356-133183357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185447730	chr4:133183360-133183361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563776658	chr4:133183380-133183381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146548082	chr4:133183415-133183416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112572139	chr4:133183436-133183437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563474429	chr4:133183443-133183444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190998031	chr4:133183456-133183457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12498781	chr4:133183457-133183458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs573242866	chr4:133183472-133183473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548943290	chr4:133183488-133183489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12506344	chr4:133183544-133183545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535174711	chr4:133183549-133183550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138782605	chr4:133183580-133183581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571679947	chr4:133183594-133183595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536998335	chr4:133183641-133183642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557658121	chr4:133183648-133183649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574285326	chr4:133183652-133183653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536929603	chr4:133183706-133183707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183554564	chr4:133183749-133183750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573091152	chr4:133183770-133183771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559896749	chr4:133183779-133183780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185904427	chr4:133183815-133183816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562057978	chr4:133183822-133183823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531068559	chr4:133183837-133183838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75550409	chr4:133183839-133183840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76328805	chr4:133183855-133183856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369333778	chr4:133183894-133183895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372424454	chr4:133183903-133183904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133183000-133184800	Weak transcription	Fetal Thymus	thymus
2	chr4:133184000-133190000	Enhancers	Dnd41	blood

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