Variant report

Variant	nsv970187
Chromosome Location	chr6:160999450-161005020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160939489..160941375-chr6:160998330..161000013,2	K562	blood:
2	chr6:160940997..160941666-chr6:160999443..161000039,2	K562	blood:
3	chr6:161004456..161005962-chr6:161009319..161011113,2	K562	blood:

Extended variants
information (count: 250 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:250 , 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	rs577085780	chr6:160999482-160999483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547586738	chr6:160999496-160999497	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545712498	chr6:160999540-160999541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200920617	chr6:160999547-160999548	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189100806	chr6:160999594-160999595	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377069904	chr6:160999614-160999615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369583851	chr6:160999616-160999617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200730022	chr6:160999617-160999618	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373234964	chr6:160999623-160999624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541798241	chr6:160999628-160999629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201837428	chr6:160999646-160999647	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376549788	chr6:160999658-160999659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369044815	chr6:160999659-160999660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201378726	chr6:160999692-160999693	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199583644	chr6:160999738-160999739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370996503	chr6:160999754-160999755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374543913	chr6:160999779-160999780	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540694904	chr6:160999788-160999789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563853972	chr6:160999797-160999798	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529800733	chr6:160999859-160999860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533555639	chr6:160999870-160999871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549425939	chr6:160999889-160999890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564005933	chr6:160999897-160999898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529600413	chr6:160999910-160999911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191430133	chr6:160999942-160999943	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183972682	chr6:160999949-160999950	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535040197	chr6:160999991-160999992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370352199	chr6:161000019-161000020	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531028115	chr6:161000098-161000099	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551867512	chr6:161000108-161000109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374069293	chr6:161000115-161000116	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188358271	chr6:161000173-161000174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539615089	chr6:161000261-161000262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556123092	chr6:161000267-161000268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35020598	chr6:161000307-161000308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374847292	chr6:161000310-161000311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576192410	chr6:161000327-161000328	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369503829	chr6:161000337-161000338	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181228698	chr6:161000344-161000345	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555261944	chr6:161000386-161000387	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs41272128	chr6:161000427-161000428	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538275387	chr6:161000434-161000435	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs41272126	chr6:161000474-161000475	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371805895	chr6:161000483-161000484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146410893	chr6:161000537-161000538	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs41272124	chr6:161000538-161000539	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563692468	chr6:161000600-161000601	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs41272122	chr6:161000623-161000624	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs186598950	chr6:161000626-161000627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190322879	chr6:161000629-161000630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	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
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Coronary Disease	20032323	CNVD
Coronary Disease	20335594	CNVD
Breast cancer	22522925	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160990600-161032600	Strong transcription	Liver	Liver
2	chr6:160997200-161001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:161004400-161004800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:161004400-161005000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:161004400-161005000	Enhancers	NHEK	skin
7	chr6:161004600-161005200	Enhancers	HMEC	breast

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