Variant report

Variant	esv3354298
Chromosome Location	chr4:131405552-131406550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547994998	chr4:131405553-131405554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146820794	chr4:131405573-131405574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544388687	chr4:131405581-131405582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539977405	chr4:131405613-131405614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182123333	chr4:131405658-131405659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570017093	chr4:131405715-131405716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537451820	chr4:131405722-131405723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555339401	chr4:131405736-131405737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573901676	chr4:131405739-131405740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112287610	chr4:131405749-131405750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185717345	chr4:131405754-131405755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190237520	chr4:131405755-131405756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183798550	chr4:131405796-131405797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563049524	chr4:131405832-131405833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs60666679	chr4:131405836-131405837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200496208	chr4:131405839-131405840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375396011	chr4:131405843-131405844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369992528	chr4:131405850-131405851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372245102	chr4:131405851-131405852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376333565	chr4:131405858-131405859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188287556	chr4:131405864-131405865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369645115	chr4:131405871-131405872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373277427	chr4:131405878-131405879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376586378	chr4:131405879-131405880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193052813	chr4:131405881-131405882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368773858	chr4:131405885-131405886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373450370	chr4:131405886-131405887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377402719	chr4:131405892-131405893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183946382	chr4:131405894-131405895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371138466	chr4:131405899-131405900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372761156	chr4:131405905-131405906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374517296	chr4:131405906-131405907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377287553	chr4:131405907-131405908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370883548	chr4:131405909-131405910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374659797	chr4:131405913-131405914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368195369	chr4:131405914-131405915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187558070	chr4:131405922-131405923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191284741	chr4:131405927-131405928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377147388	chr4:131405933-131405934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183606290	chr4:131405934-131405935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370142417	chr4:131405941-131405942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370284226	chr4:131405955-131405956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188699956	chr4:131405957-131405958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144403084	chr4:131405982-131405983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564534258	chr4:131405994-131405995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542627542	chr4:131405998-131405999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562220526	chr4:131406026-131406027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373794095	chr4:131406027-131406028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191624315	chr4:131406029-131406030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529624355	chr4:131406040-131406041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
small cell lung cancer	20016488	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	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131400800-131406400	Weak transcription	NHLF	lung
2	chr4:131401000-131406600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:131406200-131408000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:131406400-131406800	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links