Variant report

Variant	esv3435067
Chromosome Location	chr6:163508438-163508963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569420518	chr6:163508480-163508481	Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs537573052	chr6:163508537-163508538	Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs144460148	chr6:163508555-163508556	Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554638274	chr6:163508557-163508558	Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148407131	chr6:163508567-163508568	Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111517896	chr6:163508595-163508596	Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574357144	chr6:163508601-163508602	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533720095	chr6:163508620-163508621	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112607085	chr6:163508628-163508629	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71008134	chr6:163508649-163508650	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200974803	chr6:163508654-163508655	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554127789	chr6:163508656-163508657	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577175120	chr6:163508694-163508695	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546103233	chr6:163508699-163508700	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61302670	chr6:163508745-163508746	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145284763	chr6:163508878-163508879	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193154224	chr6:163508897-163508898	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377716504	chr6:163508916-163508917	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561393776	chr6:163508950-163508951	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Renal cell carcinoma	18592004	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
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD
Cancer	20164919	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163505200-163514200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:163507200-163519400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:163507400-163510000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:163507400-163514600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:163507400-163514800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:163507400-163515000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:163507800-163508600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:163508400-163508800	ZNF genes & repeats	Pancreas	Pancrea
9	chr6:163508400-163509000	Flanking Active TSS	Left Ventricle	heart
10	chr6:163508400-163510000	Flanking Active TSS	Fetal Heart	heart
11	chr6:163508600-163508800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:163508600-163509200	Enhancers	Right Ventricle	heart
13	chr6:163508800-163509000	Enhancers	Psoas Muscle	Psoas
14	chr6:163508800-163520800	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links