Variant report

Variant	esv3434974
Chromosome Location	chr6:131003659-131006457
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	chr6:130994751..130996672-chr6:131006100..131008606,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185530556	chr6:131003701-131003702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561859577	chr6:131003742-131003743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148788363	chr6:131003746-131003747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548825810	chr6:131003767-131003768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191065817	chr6:131003787-131003788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527963219	chr6:131003843-131003844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552909681	chr6:131003873-131003874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181932717	chr6:131003878-131003879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538280906	chr6:131003885-131003886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142449512	chr6:131003921-131003922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371853856	chr6:131003954-131003955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1813596	chr6:131003962-131003963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2020093	chr6:131003993-131003994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs373706719	chr6:131004010-131004011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142268976	chr6:131004016-131004017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534085218	chr6:131004127-131004128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555382566	chr6:131004211-131004212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367604984	chr6:131004220-131004221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553517780	chr6:131004233-131004234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140090364	chr6:131004240-131004241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149298454	chr6:131004316-131004317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71746231	chr6:131004317-131004318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61526237	chr6:131004344-131004345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71030712	chr6:131004347-131004348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545645694	chr6:131004367-131004368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146942344	chr6:131004425-131004426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371858155	chr6:131004431-131004432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75982663	chr6:131004440-131004441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186562655	chr6:131004446-131004447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561604229	chr6:131004567-131004568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529016017	chr6:131004618-131004619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114934766	chr6:131004626-131004627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573532741	chr6:131004700-131004701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560623769	chr6:131004705-131004706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527900107	chr6:131004715-131004716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62431618	chr6:131004722-131004723	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373850233	chr6:131004776-131004777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368824206	chr6:131004821-131004822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564846492	chr6:131004841-131004842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373924647	chr6:131004849-131004850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9375758	chr6:131004867-131004868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550184754	chr6:131004946-131004947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577297731	chr6:131004956-131004957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142070040	chr6:131004996-131004997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9388831	chr6:131004998-131004999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547488726	chr6:131005072-131005073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35720631	chr6:131005225-131005226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145920217	chr6:131005250-131005251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539288820	chr6:131005269-131005270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138579222	chr6:131005273-131005274	Weak 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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Cancer	20164919	CNVD
Brain cancer	19584924	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130993800-131005400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:130997600-131005400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:131001800-131004600	Weak transcription	Ovary	ovary
4	chr6:131002400-131004600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:131003000-131005200	Weak transcription	NHDF-Ad	bronchial
6	chr6:131003200-131005000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:131004400-131004600	Enhancers	Aorta	Aorta
8	chr6:131004400-131006000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:131004600-131005600	Enhancers	Ovary	ovary
10	chr6:131004600-131006000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:131005000-131005600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:131005200-131005600	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:131005200-131005600	Enhancers	Brain Hippocampus Middle	brain
14	chr6:131005400-131005600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:131005400-131005600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:131005400-131005600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:131005400-131005600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr6:131005400-131005600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:131005400-131005600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:131005400-131005600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:131005400-131005600	Active TSS	Fetal Kidney	kidney
22	chr6:131005400-131005600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
23	chr6:131005400-131005600	Enhancers	Gastric	stomach
24	chr6:131005400-131005600	ZNF genes & repeats	Lung	lung
25	chr6:131005400-131005600	Enhancers	NHDF-Ad	bronchial
26	chr6:131005400-131005800	Bivalent Enhancer	Aorta	Aorta
27	chr6:131005600-131017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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