Variant report

Variant	esv3449750
Chromosome Location	chr4:143823052-143827350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540005600	chr4:143823055-143823056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1237280	chr4:143823056-143823057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375269300	chr4:143823083-143823084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569590556	chr4:143823119-143823120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558498501	chr4:143823138-143823139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190013004	chr4:143823186-143823187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6834650	chr4:143823232-143823233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182333375	chr4:143823261-143823262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1966791	chr4:143823294-143823295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17016916	chr4:143823303-143823304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537985751	chr4:143823325-143823326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116440113	chr4:143823359-143823360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577421483	chr4:143823370-143823371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151219732	chr4:143823398-143823399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544756033	chr4:143823438-143823439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559910791	chr4:143823518-143823519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570783939	chr4:143823560-143823561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545387793	chr4:143823583-143823584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187703566	chr4:143823584-143823585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116963258	chr4:143823603-143823604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542891274	chr4:143823617-143823618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553097211	chr4:143823622-143823623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563248111	chr4:143823668-143823669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531307318	chr4:143823696-143823697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549918697	chr4:143823743-143823744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564933793	chr4:143823745-143823746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533570767	chr4:143823768-143823769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530444474	chr4:143823809-143823810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1441413	chr4:143823839-143823840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192595543	chr4:143823859-143823860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183544446	chr4:143823900-143823901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567577831	chr4:143823918-143823919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574727545	chr4:143823919-143823920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557713956	chr4:143823958-143823959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575993447	chr4:143824022-143824023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543259217	chr4:143824057-143824058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150348063	chr4:143824059-143824060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540104618	chr4:143824126-143824127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140828949	chr4:143824127-143824128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556238495	chr4:143824140-143824141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577760202	chr4:143824195-143824196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377720348	chr4:143824228-143824229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188522530	chr4:143824230-143824231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371434835	chr4:143824288-143824289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555113800	chr4:143824290-143824291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138088042	chr4:143824296-143824297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572184319	chr4:143824309-143824310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542578651	chr4:143824338-143824339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192873931	chr4:143824354-143824355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34959108	chr4:143824360-143824361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:71)

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
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
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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143821800-143823200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:143822600-143831200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:143823000-143823200	Enhancers	Rectal Smooth Muscle	rectum

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