Variant report

Variant	esv3396674
Chromosome Location	chr4:56075095-56079793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111529537	chr4:56078433-56078434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77183626	chr4:56078437-56078438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200186432	chr4:56078438-56078439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180931867	chr4:56078446-56078447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549951640	chr4:56078450-56078451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187196656	chr4:56078518-56078519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73151207	chr4:56078576-56078577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs375614074	chr4:56078639-56078640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540317462	chr4:56078696-56078697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75638488	chr4:56078708-56078709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114238288	chr4:56078741-56078742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369174056	chr4:56078744-56078745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527807146	chr4:56078750-56078751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561325991	chr4:56078769-56078770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373687063	chr4:56078785-56078786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539722878	chr4:56078824-56078825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530378023	chr4:56078879-56078880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557727896	chr4:56078884-56078885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78505034	chr4:56078910-56078911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191952035	chr4:56078912-56078913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532006912	chr4:56078917-56078918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11133366	chr4:56078923-56078924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562670024	chr4:56078966-56078967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574576292	chr4:56078989-56078990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77090799	chr4:56079014-56079015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560334330	chr4:56079016-56079017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531260291	chr4:56079088-56079089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531311745	chr4:56079089-56079090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373361250	chr4:56079099-56079100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144341941	chr4:56079147-56079148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534066911	chr4:56079153-56079154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200489475	chr4:56079158-56079159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74368714	chr4:56079166-56079167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76997275	chr4:56079171-56079172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148767868	chr4:56079181-56079182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539074973	chr4:56079214-56079215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75734237	chr4:56079318-56079319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79434297	chr4:56079329-56079330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182558903	chr4:56079387-56079388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186686311	chr4:56079489-56079490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79290437	chr4:56079509-56079510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190734958	chr4:56079520-56079521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182564383	chr4:56079535-56079536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576429002	chr4:56079572-56079573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77928419	chr4:56079577-56079578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77696007	chr4:56079578-56079579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146872004	chr4:56079643-56079644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548002525	chr4:56079651-56079652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561899179	chr4:56079686-56079687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527528381	chr4:56079690-56079691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56078400-56080600	Weak transcription	Brain Anterior Caudate	brain
2	chr4:56078800-56081600	Enhancers	HUVEC	blood vessel
3	chr4:56079200-56080000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:56079400-56080600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr4:56079600-56080600	Enhancers	Left Ventricle	heart

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