Variant report

Variant	esv3350132
Chromosome Location	chr6:165425085-165425366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555462985	chr6:165425141-165425142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1322203	chr6:165425145-165425146	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs7760567	chr6:165425158-165425159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556101261	chr6:165425175-165425176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1322202	chr6:165425181-165425182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1322201	chr6:165425189-165425190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546855510	chr6:165425224-165425225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571843692	chr6:165425233-165425234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539150801	chr6:165425269-165425270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553958040	chr6:165425300-165425301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572528610	chr6:165425302-165425303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1322200	chr6:165425309-165425310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs76900432	chr6:165425316-165425317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202234033	chr6:165425322-165425323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576768438	chr6:165425330-165425331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2146031	chr6:165425338-165425339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561940705	chr6:165425339-165425340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165422200-165425600	Enhancers	HSMM	muscle
2	chr6:165422400-165425800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:165422800-165426800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:165423200-165425400	Enhancers	Fetal Heart	heart
5	chr6:165423400-165425400	Enhancers	NH-A	brain
6	chr6:165423600-165425800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:165423800-165425200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:165424000-165425600	Enhancers	Osteobl	bone
9	chr6:165424200-165425200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:165424200-165425400	Enhancers	Placenta	Placenta
11	chr6:165424400-165425600	Enhancers	HSMMtube	muscle
12	chr6:165424800-165426200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:165424800-165426600	Weak transcription	Fetal Kidney	kidney
14	chr6:165425000-165427400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:165425000-165427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:165425200-165426600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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