Variant report

Variant	nsv523189
Chromosome Location	chr6:150741436-150743364
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	chr6:150739151..150742146-chr6:150742181..150746418,5	K562	blood:
2	chr6:150739151..150742146-chr6:150742181..150746418,5	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs652800	chr6:150741436-150741437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562955369	chr6:150741437-150741438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531780921	chr6:150741465-150741466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545383219	chr6:150741481-150741482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565444513	chr6:150741527-150741528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527947348	chr6:150741549-150741550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539798381	chr6:150741635-150741636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560009618	chr6:150741647-150741648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547692683	chr6:150741700-150741701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567493742	chr6:150741706-150741707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530207066	chr6:150741748-150741749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183061186	chr6:150741770-150741771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188096360	chr6:150741823-150741824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs686410	chr6:150741847-150741848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562022988	chr6:150741927-150741928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77286585	chr6:150741930-150741931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140046463	chr6:150741933-150741934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192908398	chr6:150741969-150741970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534882789	chr6:150742140-150742141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142332727	chr6:150742220-150742221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550298071	chr6:150742233-150742234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574718789	chr6:150742333-150742334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543633651	chr6:150742337-150742338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151282713	chr6:150742393-150742394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576561573	chr6:150742422-150742423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545084939	chr6:150742424-150742425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140967585	chr6:150742437-150742438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570439770	chr6:150742469-150742470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140540512	chr6:150742479-150742480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150462442	chr6:150742515-150742516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73000933	chr6:150742613-150742614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs116368075	chr6:150742631-150742632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546700276	chr6:150742665-150742666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369026737	chr6:150742680-150742681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147737135	chr6:150742682-150742683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375491005	chr6:150742697-150742698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142650036	chr6:150742699-150742700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534307402	chr6:150742716-150742717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554943109	chr6:150742723-150742724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55785509	chr6:150742769-150742770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146918862	chr6:150742795-150742796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557154997	chr6:150742821-150742822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576478230	chr6:150742831-150742832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137905157	chr6:150742853-150742854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558763948	chr6:150742854-150742855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572435949	chr6:150742877-150742878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185473734	chr6:150742881-150742882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561291238	chr6:150742899-150742900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115461474	chr6:150742908-150742909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187339188	chr6:150742909-150742910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Follicular lymphoma	20505157	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
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150740600-150742000	Weak transcription	Fetal Kidney	kidney
2	chr6:150740600-150742000	Weak transcription	Fetal Stomach	stomach
3	chr6:150740600-150744800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:150740600-150745800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:150740600-150747600	Weak transcription	Right Atrium	heart
6	chr6:150740600-150757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:150740800-150742000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:150740800-150743200	Weak transcription	Pancreas	Pancrea
9	chr6:150740800-150746800	Weak transcription	Gastric	stomach
10	chr6:150741000-150743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:150741000-150746800	Weak transcription	Spleen	Spleen
12	chr6:150742000-150742600	Enhancers	Fetal Kidney	kidney
13	chr6:150742000-150742600	Enhancers	Fetal Stomach	stomach
14	chr6:150742000-150742800	Enhancers	Fetal Muscle Leg	muscle
15	chr6:150742600-150747400	Weak transcription	Fetal Kidney	kidney

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