Variant report

Variant	esv3445490
Chromosome Location	chr6:143611617-143612080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192186124	chr6:143611630-143611631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9399434	chr6:143611631-143611632	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs56777119	chr6:143611676-143611677	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs536622726	chr6:143611696-143611697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200850272	chr6:143611736-143611737	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568527029	chr6:143611740-143611741	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539317583	chr6:143611753-143611754	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550887066	chr6:143611776-143611777	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114746381	chr6:143611786-143611787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149131587	chr6:143611833-143611834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572834401	chr6:143611835-143611836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540042250	chr6:143611839-143611840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114195270	chr6:143611881-143611882	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371964916	chr6:143611895-143611896	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9373385	chr6:143611898-143611899	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs12189942	chr6:143611927-143611928	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs12189943	chr6:143611936-143611937	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530906302	chr6:143611939-143611940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546253960	chr6:143611948-143611949	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56805320	chr6:143611986-143611987	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61517177	chr6:143612004-143612005	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140654905	chr6:143612009-143612010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144522442	chr6:143612075-143612076	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143583800-143615400	Weak transcription	K562	blood
2	chr6:143598600-143620200	Weak transcription	Brain Angular Gyrus	brain
3	chr6:143603200-143616800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:143603200-143622200	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:143605400-143614600	Weak transcription	NHDF-Ad	bronchial
6	chr6:143605600-143622000	Weak transcription	HepG2	liver
7	chr6:143607600-143622200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:143608400-143620800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:143608600-143620800	Weak transcription	Left Ventricle	heart
10	chr6:143608600-143624200	Weak transcription	Aorta	Aorta
11	chr6:143608800-143612400	Weak transcription	Fetal Stomach	stomach
12	chr6:143608800-143619800	Weak transcription	HMEC	breast
13	chr6:143608800-143624200	Weak transcription	Ovary	ovary
14	chr6:143608800-143629400	Weak transcription	NHEK	skin
15	chr6:143609400-143614800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:143609400-143622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:143609600-143612400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:143609800-143621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:143610000-143613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:143610000-143614200	Weak transcription	Brain Anterior Caudate	brain
21	chr6:143610000-143626000	Weak transcription	Fetal Intestine Large	intestine
22	chr6:143610200-143611800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:143611200-143616800	Strong transcription	Liver	Liver
24	chr6:143611400-143612200	Enhancers	Lung	lung
25	chr6:143611400-143613800	Strong transcription	Fetal Intestine Small	intestine
26	chr6:143611600-143612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:143611600-143613800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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