Variant report

Variant	esv3377162
Chromosome Location	chr6:161008984-161013553
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	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550283537	chr6:161009025-161009026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183182295	chr6:161009030-161009031	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570204898	chr6:161009045-161009046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs41272082	chr6:161009074-161009075	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10601217	chr6:161009075-161009076	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538034993	chr6:161009083-161009084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554757886	chr6:161009114-161009115	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568254317	chr6:161009118-161009119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6922216	chr6:161009121-161009122	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs137875438	chr6:161009126-161009127	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554053960	chr6:161009150-161009151	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72501791	chr6:161009172-161009173	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113431950	chr6:161009211-161009212	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576740966	chr6:161009225-161009226	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545426172	chr6:161009226-161009227	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190772080	chr6:161009229-161009230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575687501	chr6:161009242-161009243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182619410	chr6:161009254-161009255	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562109961	chr6:161009258-161009259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527909985	chr6:161009266-161009267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79319956	chr6:161009278-161009279	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545710849	chr6:161009286-161009287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553100369	chr6:161009288-161009289	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539143965	chr6:161009289-161009290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564835939	chr6:161009290-161009291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533164890	chr6:161009318-161009319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550246601	chr6:161009324-161009325	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570068019	chr6:161009395-161009396	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529366605	chr6:161009419-161009420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549513084	chr6:161009453-161009454	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116109016	chr6:161009461-161009462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73784299	chr6:161009468-161009469	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113572208	chr6:161009494-161009495	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149311110	chr6:161009529-161009530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539040303	chr6:161009546-161009547	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187631026	chr6:161009556-161009557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73594901	chr6:161009582-161009583	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192848510	chr6:161009592-161009593	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561678882	chr6:161009598-161009599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199809443	chr6:161009675-161009676	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3902910	chr6:161009684-161009685	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572533962	chr6:161009686-161009687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9457945	chr6:161009696-161009697	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs564621446	chr6:161009742-161009743	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544224837	chr6:161009743-161009744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111681430	chr6:161009748-161009749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144649090	chr6:161009810-161009811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148400847	chr6:161009816-161009817	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529325689	chr6:161009842-161009843	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192303959	chr6:161009844-161009845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	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
Carotid artery disease	21127300	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:161008400-161009000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161009000-161019200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links