Variant report

Variant	nsv277706
Chromosome Location	chr4:86706122-86706129
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	chr4:86699451..86703287-chr4:86705841..86708546,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138639	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 76 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34057092	chr4:86706126-86706127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86695400-86708200	Weak transcription	Pancreas	Pancrea
2	chr4:86697200-86707800	Weak transcription	Spleen	Spleen
3	chr4:86700600-86706800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:86701000-86708000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:86701000-86708000	Weak transcription	HMEC	breast
6	chr4:86701000-86728800	Weak transcription	Right Ventricle	heart
7	chr4:86701200-86708800	Weak transcription	Right Atrium	heart
8	chr4:86701200-86715600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:86701800-86708800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:86702200-86709800	Weak transcription	Fetal Kidney	kidney
11	chr4:86702200-86711200	Weak transcription	Fetal Lung	lung
12	chr4:86702400-86707000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:86704000-86715600	Enhancers	Osteobl	bone
14	chr4:86704000-86719800	Enhancers	NHDF-Ad	bronchial
15	chr4:86704200-86706400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:86704200-86706400	Enhancers	HSMM	muscle
17	chr4:86704400-86709800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:86704400-86710000	Enhancers	NHLF	lung
19	chr4:86704600-86706400	Enhancers	Primary B cells from peripheral blood	blood
20	chr4:86704800-86706400	Enhancers	HSMMtube	muscle
21	chr4:86705000-86712600	Weak transcription	Primary B cells from cord blood	blood
22	chr4:86705200-86709400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:86705400-86706600	Enhancers	Stomach Smooth Muscle	stomach
24	chr4:86705400-86707200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:86705400-86707800	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:86705400-86711200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:86705600-86707000	Enhancers	Small Intestine	intestine
28	chr4:86705600-86707800	Weak transcription	A549	lung
29	chr4:86705600-86708000	Weak transcription	NH-A	brain
30	chr4:86705800-86706200	Enhancers	HUVEC	blood vessel
31	chr4:86705800-86707800	Weak transcription	Aorta	Aorta
32	chr4:86705800-86708000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:86705800-86708000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:86705800-86708800	Weak transcription	Esophagus	oesophagus
35	chr4:86705800-86710000	Weak transcription	Adipose Nuclei	Adipose
36	chr4:86705800-86710200	Weak transcription	Psoas Muscle	Psoas
37	chr4:86705800-86710800	Weak transcription	Fetal Stomach	stomach
38	chr4:86705800-86719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:86706000-86707000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:86706000-86707800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:86706000-86708000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:86706000-86709000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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