Variant report

Variant	esv3449865
Chromosome Location	chr4:54541828-54543952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54537947..54540033-chr4:54541498..54544884,3	K562	blood:
2	chr4:54538463..54540033-chr4:54542126..54544884,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138543260	chr4:54541839-54541840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6822736	chr4:54541846-54541847	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
3	rs556559593	chr4:54541923-54541924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574885399	chr4:54541928-54541929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570054277	chr4:54541937-54541938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535449078	chr4:54541959-54541960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555839542	chr4:54541982-54541983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202242627	chr4:54542033-54542034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572160954	chr4:54542115-54542116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541122440	chr4:54542130-54542131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553591042	chr4:54542164-54542165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201265303	chr4:54542194-54542195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80157246	chr4:54542200-54542201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4577639	chr4:54542201-54542202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546104298	chr4:54542203-54542204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61088098	chr4:54542208-54542209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562609443	chr4:54542213-54542214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376771521	chr4:54542220-54542221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531349200	chr4:54542238-54542239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531251180	chr4:54542256-54542257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541415929	chr4:54542320-54542321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549462708	chr4:54542344-54542345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527425919	chr4:54542366-54542367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547502156	chr4:54542402-54542403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571084978	chr4:54542404-54542405	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183122287	chr4:54542459-54542460	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554395018	chr4:54542463-54542464	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113795251	chr4:54542496-54542497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs17083272	chr4:54542565-54542566	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs118088548	chr4:54542615-54542616	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs555387056	chr4:54542651-54542652	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565725735	chr4:54542654-54542655	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2590809	chr4:54542666-54542667	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs372528061	chr4:54542702-54542703	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs111618089	chr4:54542717-54542718	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs147994552	chr4:54542736-54542737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576987222	chr4:54542744-54542745	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs376040647	chr4:54542823-54542824	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187463320	chr4:54542881-54542882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556428250	chr4:54542885-54542886	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141525146	chr4:54542898-54542899	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs150891296	chr4:54542900-54542901	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561703381	chr4:54542917-54542918	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572050951	chr4:54542930-54542931	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564789524	chr4:54542991-54542992	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564135847	chr4:54542998-54542999	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140063613	chr4:54543027-54543028	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144135280	chr4:54543085-54543086	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1351056	chr4:54543108-54543109	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1351055	chr4:54543112-54543113	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54537200-54542400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:54538200-54542200	Weak transcription	Ovary	ovary
3	chr4:54539000-54542400	Weak transcription	Liver	Liver
4	chr4:54541200-54542400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr4:54541200-54543000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:54541400-54542000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:54542000-54542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:54542200-54542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:54542200-54543200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:54542200-54543400	Enhancers	Adipose Nuclei	Adipose
11	chr4:54542200-54543400	Enhancers	Ovary	ovary
12	chr4:54542200-54543400	Enhancers	NHLF	lung
13	chr4:54542200-54543600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:54542200-54543600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:54542200-54543800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:54542200-54543800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:54542400-54543000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:54542400-54543200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:54542400-54543400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:54542400-54543400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:54542400-54543400	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:54542400-54543400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:54542400-54543400	Enhancers	Liver	Liver
24	chr4:54542400-54543400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:54542400-54543400	Enhancers	Osteobl	bone
26	chr4:54542800-54543200	Enhancers	NHDF-Ad	bronchial
27	chr4:54542800-54543600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:54543000-54543400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:54543000-54543600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:54543200-54543400	Enhancers	Aorta	Aorta
31	chr4:54543200-54543600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:54543200-54547800	Weak transcription	NHDF-Ad	bronchial
33	chr4:54543200-54550400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:54543400-54543800	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr4:54543400-54545000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:54543400-54547600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr4:54543400-54548000	Weak transcription	Osteobl	bone
38	chr4:54543600-54545600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:54543600-54547800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:54543600-54548000	Weak transcription	Muscle Satellite Cultured Cells	--

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