Variant report

Variant	esv3414195
Chromosome Location	chr4:147897629-147899274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 68 )

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	rs189482386	chr4:147897639-147897640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7663340	chr4:147897673-147897674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180878398	chr4:147897674-147897675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140667918	chr4:147897676-147897677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78271312	chr4:147897700-147897701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527451058	chr4:147897719-147897720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75890110	chr4:147897721-147897722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573294185	chr4:147897759-147897760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560617891	chr4:147897778-147897779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28485213	chr4:147897818-147897819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185484462	chr4:147897913-147897914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57066249	chr4:147897922-147897923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138300226	chr4:147897949-147897950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80116076	chr4:147897982-147897983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149217455	chr4:147897999-147898000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145130445	chr4:147898012-147898013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532965222	chr4:147898042-147898043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189516560	chr4:147898047-147898048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181521317	chr4:147898094-147898095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112548455	chr4:147898114-147898115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377501282	chr4:147898157-147898158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186450325	chr4:147898175-147898176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559999379	chr4:147898219-147898220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138950350	chr4:147898232-147898233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577347904	chr4:147898314-147898315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546183983	chr4:147898321-147898322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142068656	chr4:147898351-147898352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572322490	chr4:147898398-147898399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540854105	chr4:147898467-147898468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560777148	chr4:147898497-147898498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529737718	chr4:147898510-147898511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370073400	chr4:147898556-147898557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1866017	chr4:147898612-147898613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78391538	chr4:147898623-147898624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375806222	chr4:147898712-147898713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146322458	chr4:147898759-147898760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191688487	chr4:147898799-147898800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148089757	chr4:147898864-147898865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552172009	chr4:147898886-147898887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181569216	chr4:147898904-147898905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10027282	chr4:147898913-147898914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548776201	chr4:147898933-147898934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568713970	chr4:147898984-147898985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537530225	chr4:147898988-147898989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545303929	chr4:147898989-147898990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557446815	chr4:147898995-147898996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141816198	chr4:147899014-147899015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570981892	chr4:147899033-147899034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144449579	chr4:147899065-147899066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186064707	chr4:147899116-147899117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147895000-147898400	Enhancers	Primary hematopoietic stem cells	blood
2	chr4:147895600-147898000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:147895600-147898200	Enhancers	Fetal Thymus	thymus
4	chr4:147895600-147898200	Enhancers	Thymus	Thymus
5	chr4:147895600-147899000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:147896800-147897800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:147896800-147898200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:147896800-147898200	Enhancers	HUVEC	blood vessel
9	chr4:147897000-147897800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:147897600-147898200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:147897600-147898400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:147897800-147902600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:147897800-147902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:147898200-147905800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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