Variant report

Variant	nsv933727
Chromosome Location	chr6:76618124-76618721
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	chr6:76617686..76620159-chr6:76629560..76631488,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543117116	chr6:76618127-76618128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556649881	chr6:76618131-76618132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561386942	chr6:76618134-76618135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369403151	chr6:76618163-76618164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75371739	chr6:76618195-76618196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201097991	chr6:76618206-76618207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9443199	chr6:76618235-76618236	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1045754	chr6:76618261-76618262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372366980	chr6:76618263-76618264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144816202	chr6:76618264-76618265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114970874	chr6:76618265-76618266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189411232	chr6:76618299-76618300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397517051	chr6:76618316-76618317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550468901	chr6:76618322-76618323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568465051	chr6:76618328-76618329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368805948	chr6:76618331-76618332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372436540	chr6:76618354-76618355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535863730	chr6:76618370-76618371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377240075	chr6:76618382-76618383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368681245	chr6:76618385-76618386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542214634	chr6:76618432-76618433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111801856	chr6:76618506-76618507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560593498	chr6:76618576-76618577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62414824	chr6:76618582-76618583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs534733100	chr6:76618645-76618646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533915131	chr6:76618666-76618667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76573000-76624000	Weak transcription	Placenta	Placenta
2	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
3	chr6:76577200-76624600	Weak transcription	Fetal Kidney	kidney
4	chr6:76583800-76624600	Weak transcription	Pancreas	Pancrea
5	chr6:76584200-76629400	Weak transcription	Ovary	ovary
6	chr6:76584400-76623800	Weak transcription	Lung	lung
7	chr6:76584800-76644600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:76585800-76624000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:76585800-76624400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:76585800-76626800	Weak transcription	Left Ventricle	heart
11	chr6:76585800-76644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:76586000-76627600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:76586200-76624400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:76587600-76623800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:76592600-76624400	Weak transcription	Osteobl	bone
16	chr6:76592800-76631800	Weak transcription	NHEK	skin
17	chr6:76594600-76632200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:76597200-76624600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:76600200-76631800	Weak transcription	HMEC	breast
20	chr6:76600400-76624600	Weak transcription	Brain Substantia Nigra	brain
21	chr6:76602400-76619200	Weak transcription	HUVEC	blood vessel
22	chr6:76602600-76624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:76603600-76619000	Weak transcription	Liver	Liver
24	chr6:76604000-76624400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr6:76604400-76623800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:76604400-76627000	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:76604600-76623800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:76606200-76623600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:76606600-76623400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:76606600-76623800	Weak transcription	Adipose Nuclei	Adipose
31	chr6:76606600-76628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:76606600-76629200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:76606600-76632000	Weak transcription	NHDF-Ad	bronchial
34	chr6:76606800-76619000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:76606800-76619200	Weak transcription	Brain Anterior Caudate	brain
36	chr6:76606800-76624000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr6:76606800-76632000	Weak transcription	HSMM	muscle
38	chr6:76607000-76623800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:76608600-76622600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:76608600-76624400	Weak transcription	Esophagus	oesophagus
41	chr6:76608600-76628000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:76608600-76629400	Weak transcription	Aorta	Aorta
43	chr6:76611600-76624200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:76615200-76623600	Weak transcription	Fetal Intestine Large	intestine
45	chr6:76615200-76628400	Weak transcription	Fetal Intestine Small	intestine
46	chr6:76615400-76622600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:76615600-76623800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:76615800-76624400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:76615800-76630200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:76616000-76626800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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