Variant report

Variant	esv3439611
Chromosome Location	chr4:86933199-86933565
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	chr4:86932598..86934396-chr4:86939558..86941461,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK10-1	chr4:86933449-86935027	ENSG00000261496.1

Extended variants
information (count: 20 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2589523	chr4:86933202-86933203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181099669	chr4:86933206-86933207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563664910	chr4:86933238-86933239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17011302	chr4:86933241-86933242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577049098	chr4:86933252-86933253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550027828	chr4:86933255-86933256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139148157	chr4:86933258-86933259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545710576	chr4:86933270-86933271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551236187	chr4:86933281-86933282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571603838	chr4:86933294-86933295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532338130	chr4:86933295-86933296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547662574	chr4:86933299-86933300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565774312	chr4:86933339-86933340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565887465	chr4:86933340-86933341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116079534	chr4:86933343-86933344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3755970	chr4:86933351-86933352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs184512558	chr4:86933415-86933416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188238380	chr4:86933502-86933503	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558812556	chr4:86933552-86933553	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs551408800	chr4:86933557-86933558	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86889400-86935000	Weak transcription	Psoas Muscle	Psoas
2	chr4:86916800-86935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:86916800-86985400	Weak transcription	Ovary	ovary
4	chr4:86917000-86933800	Weak transcription	Gastric	stomach
5	chr4:86917000-86933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:86917000-86935200	Weak transcription	Left Ventricle	heart
7	chr4:86917000-86935800	Weak transcription	Spleen	Spleen
8	chr4:86917000-86954000	Weak transcription	Pancreas	Pancrea
9	chr4:86917400-86940400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:86919400-86941200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:86920200-86933800	Weak transcription	Aorta	Aorta
12	chr4:86922800-86935200	Weak transcription	Right Atrium	heart
13	chr4:86925400-86937200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:86925600-86935000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:86925600-86935200	Weak transcription	Adipose Nuclei	Adipose
16	chr4:86925600-86935600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:86925600-86937400	Weak transcription	Fetal Kidney	kidney
18	chr4:86927400-86935400	Weak transcription	Primary B cells from cord blood	blood
19	chr4:86928400-86937800	Weak transcription	Fetal Stomach	stomach
20	chr4:86928600-86953400	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:86931000-86935200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:86931600-86933200	Enhancers	NHDF-Ad	bronchial
23	chr4:86931600-86937600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:86931800-86933200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:86931800-86933600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:86931800-86937600	Enhancers	Osteobl	bone
27	chr4:86932200-86934000	Enhancers	Fetal Heart	heart
28	chr4:86932400-86933200	Enhancers	HSMM	muscle
29	chr4:86932400-86935200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:86932400-86935800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:86932400-86937600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:86932600-86935200	Weak transcription	HSMMtube	muscle
33	chr4:86932600-86936400	Weak transcription	HUVEC	blood vessel
34	chr4:86932600-86937800	Weak transcription	Brain Angular Gyrus	brain
35	chr4:86932800-86934400	Weak transcription	NH-A	brain
36	chr4:86932800-86935800	Weak transcription	NHLF	lung
37	chr4:86932800-86953800	Weak transcription	Fetal Lung	lung
38	chr4:86933000-86934400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:86933000-86937600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:86933200-86933400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr4:86933200-86933800	Weak transcription	NHDF-Ad	bronchial
42	chr4:86933200-86934400	Weak transcription	HSMM	muscle
43	chr4:86933200-86935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:86933400-86940200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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