Variant report

Variant	nsv523973
Chromosome Location	chr6:165798963-165799614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9457084	chr6:165798963-165798964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570379258	chr6:165798980-165798981	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187193872	chr6:165799005-165799006	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546253278	chr6:165799006-165799007	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs220806	chr6:165799038-165799039	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs535291558	chr6:165799087-165799088	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117696853	chr6:165799105-165799106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554052690	chr6:165799148-165799149	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575493551	chr6:165799171-165799172	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191986364	chr6:165799200-165799201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182896364	chr6:165799214-165799215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187618518	chr6:165799215-165799216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs56230902	chr6:165799236-165799237	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562199428	chr6:165799265-165799266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144466125	chr6:165799274-165799275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544860710	chr6:165799279-165799280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369253544	chr6:165799301-165799302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563056255	chr6:165799309-165799310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533459171	chr6:165799330-165799331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552020617	chr6:165799331-165799332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117442798	chr6:165799360-165799361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528106393	chr6:165799379-165799380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546164426	chr6:165799446-165799447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558842173	chr6:165799447-165799448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571599044	chr6:165799467-165799468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555903679	chr6:165799471-165799472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373021937	chr6:165799508-165799509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376679821	chr6:165799509-165799510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190193433	chr6:165799590-165799591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182822711	chr6:165799602-165799603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3799162	chr6:165799614-165799615	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165744800-165801200	Weak transcription	Hela-S3	cervix
2	chr6:165745600-165802800	Weak transcription	Fetal Heart	heart
3	chr6:165747400-165802600	Weak transcription	HSMMtube	muscle
4	chr6:165747600-165853000	Weak transcription	A549	lung
5	chr6:165764400-165813400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:165772000-165835800	Weak transcription	Fetal Kidney	kidney
7	chr6:165779800-165805000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:165787400-165813400	Weak transcription	Fetal Lung	lung
9	chr6:165788000-165856800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:165788400-165803600	Weak transcription	Fetal Stomach	stomach
11	chr6:165790000-165810600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:165790200-165831400	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:165790400-165804000	Weak transcription	Aorta	Aorta
14	chr6:165790400-165811400	Weak transcription	Ovary	ovary
15	chr6:165791400-165834000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:165794000-165807400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:165795200-165799600	Strong transcription	HSMM	muscle
18	chr6:165795200-165801000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:165795800-165804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:165796000-165813400	Weak transcription	Brain Germinal Matrix	brain
21	chr6:165796400-165823000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:165796800-165806400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:165797200-165807600	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:165797400-165800600	Weak transcription	Right Ventricle	heart
25	chr6:165797600-165799200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:165797800-165809800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:165798000-165803600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:165798000-165804400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:165798200-165804400	Strong transcription	Left Ventricle	heart
30	chr6:165798400-165799000	Strong transcription	Fetal Brain Male	brain
31	chr6:165798400-165799200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:165798400-165802600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:165798800-165802000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:165798800-165804400	Strong transcription	Fetal Brain Female	brain
35	chr6:165799000-165817600	Weak transcription	Fetal Brain Male	brain
36	chr6:165799200-165801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:165799200-165805800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:165799200-165808600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:165799200-165811800	Weak transcription	Brain Angular Gyrus	brain
40	chr6:165799600-165800400	Weak transcription	HSMM	muscle

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