Variant report

Variant	nsv461568
Chromosome Location	chr4:86979082-86979927
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	chr4:86974348..86976679-chr4:86978244..86980026,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1436529	chr4:86979082-86979083	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113984607	chr4:86979091-86979092	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373793412	chr4:86979092-86979093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3775180	chr4:86979147-86979148	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530234913	chr4:86979165-86979166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540093755	chr4:86979199-86979200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145563601	chr4:86979213-86979214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184929775	chr4:86979246-86979247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530967747	chr4:86979249-86979250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3775181	chr4:86979253-86979254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35485855	chr4:86979280-86979281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571478630	chr4:86979378-86979379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538896401	chr4:86979387-86979388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115079539	chr4:86979390-86979391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550245985	chr4:86979391-86979392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138085752	chr4:86979428-86979429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535942880	chr4:86979453-86979454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191060916	chr4:86979493-86979494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529617229	chr4:86979494-86979495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183872135	chr4:86979558-86979559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3775182	chr4:86979583-86979584	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
22	rs577489453	chr4:86979604-86979605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541677005	chr4:86979605-86979606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559997809	chr4:86979653-86979654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556849049	chr4:86979661-86979662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141988231	chr4:86979722-86979723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143645449	chr4:86979768-86979769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531003470	chr4:86979823-86979824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552310155	chr4:86979824-86979825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114645395	chr4:86979876-86979877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532312820	chr4:86979896-86979897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535321204	chr4:86979899-86979900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3775183	chr4:86979927-86979928	Weak transcription Strong transcription	n/a	n/a	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
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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:86955000-86985000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:86955200-87003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:86958400-86992600	Weak transcription	Fetal Kidney	kidney
7	chr4:86961200-86979400	Weak transcription	Fetal Stomach	stomach
8	chr4:86961200-86981000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:86963600-86988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:86965200-86985800	Weak transcription	Adipose Nuclei	Adipose
11	chr4:86965200-86987000	Weak transcription	Brain Substantia Nigra	brain
12	chr4:86970000-86988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:86971800-87003800	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:86975200-87003600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:86976000-86984200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:86976200-86987800	Weak transcription	Brain Germinal Matrix	brain
17	chr4:86976400-87000200	Weak transcription	Fetal Brain Female	brain
18	chr4:86976800-86986400	Weak transcription	Fetal Brain Male	brain
19	chr4:86977400-87003800	Weak transcription	Brain Anterior Caudate	brain
20	chr4:86978800-86988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:86979000-86979200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:86979400-86980000	Strong transcription	Fetal Stomach	stomach
23	chr4:86979600-86985400	Weak transcription	Aorta	Aorta

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