Variant report

Variant	esv17516
Chromosome Location	chr4:54069503-54079714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 391 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368668169	chr4:54069504-54069505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375613246	chr4:54069525-54069526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146342692	chr4:54069544-54069545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368177951	chr4:54069575-54069576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557509960	chr4:54069601-54069602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564175516	chr4:54069615-54069616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554573979	chr4:54069620-54069621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543204631	chr4:54069631-54069632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377027496	chr4:54069687-54069688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552617809	chr4:54069704-54069705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372891843	chr4:54069734-54069735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193243002	chr4:54069744-54069745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78054388	chr4:54069748-54069749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139296289	chr4:54069755-54069756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144122592	chr4:54069796-54069797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112241697	chr4:54069802-54069803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559760819	chr4:54069803-54069804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183790734	chr4:54069872-54069873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369662795	chr4:54069919-54069920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188070846	chr4:54069940-54069941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531138984	chr4:54069982-54069983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373728230	chr4:54069989-54069990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550734924	chr4:54070013-54070014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569428366	chr4:54070046-54070047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145004802	chr4:54070053-54070054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554975933	chr4:54070075-54070076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113436713	chr4:54070146-54070147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376203816	chr4:54070147-54070148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7656903	chr4:54070179-54070180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs74821642	chr4:54070201-54070202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543616615	chr4:54070203-54070204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148681330	chr4:54070229-54070230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557175320	chr4:54070238-54070239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117282922	chr4:54070243-54070244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543141097	chr4:54070293-54070294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559825474	chr4:54070315-54070316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181312444	chr4:54070326-54070327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545025625	chr4:54070328-54070329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565594426	chr4:54070347-54070348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373293310	chr4:54070378-54070379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573259872	chr4:54070400-54070401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531077843	chr4:54070419-54070420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183857889	chr4:54070433-54070434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567498338	chr4:54070455-54070456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372244683	chr4:54070504-54070505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563868214	chr4:54070508-54070509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189025632	chr4:54070511-54070512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565599380	chr4:54070576-54070577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534631888	chr4:54070624-54070625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114345002	chr4:54070693-54070694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Cancer	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 multiforme	21569311	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	21525872	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
Gastrointestinal stromal cancer	17527083	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17209131	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54043200-54077000	Weak transcription	Primary T cells from cord blood	blood
2	chr4:54048000-54086000	Weak transcription	GM12878-XiMat	blood
3	chr4:54051000-54073000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:54053000-54093000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:54054600-54072200	Weak transcription	K562	blood
6	chr4:54056600-54076400	Weak transcription	Ovary	ovary
7	chr4:54058200-54079800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:54062800-54071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:54063400-54071400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:54063400-54079400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:54064000-54071200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr4:54064200-54071600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:54064400-54078400	Weak transcription	Small Intestine	intestine
14	chr4:54064400-54106600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:54066000-54071000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:54066200-54069800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:54066200-54080000	Weak transcription	Psoas Muscle	Psoas
18	chr4:54066400-54070000	Weak transcription	NHDF-Ad	bronchial
19	chr4:54066400-54099000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:54069800-54070000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:54069800-54070400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:54069800-54074600	Weak transcription	HepG2	liver
23	chr4:54070000-54070200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr4:54070000-54070600	Enhancers	NHDF-Ad	bronchial
25	chr4:54070000-54074800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:54070200-54072600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:54070400-54070800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:54070600-54071000	Weak transcription	NHDF-Ad	bronchial
29	chr4:54070800-54072200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:54071000-54071800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:54071000-54072800	Enhancers	NHDF-Ad	bronchial
32	chr4:54071200-54071600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:54071200-54071600	Enhancers	NH-A	brain
34	chr4:54071200-54072200	Enhancers	Osteobl	bone
35	chr4:54071200-54072600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:54071200-54072600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:54071400-54072000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:54071400-54072200	Enhancers	HSMM	muscle
39	chr4:54072200-54073000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:54072600-54085000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:54072800-54089000	Weak transcription	NHDF-Ad	bronchial
42	chr4:54073000-54073400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:54073400-54077000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:54073400-54079200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:54074400-54075600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr4:54074600-54075400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:54074600-54075600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:54074600-54075600	Enhancers	HepG2	liver
49	chr4:54074800-54075400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:54074800-54075600	Enhancers	HUES64 Cell Line	embryonic stem cell

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