Variant report

Variant	nsv603057
Chromosome Location	chr6:48932479-48937678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:48925640..48928560-chr6:48933916..48936835,2	K562	blood:
2	chr6:48930520..48932119-chr6:48937053..48938837,2	MCF-7	breast:
3	chr6:48923639..48925740-chr6:48930258..48932509,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540049923	chr6:48932508-48932509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193106461	chr6:48932608-48932609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565242462	chr6:48932727-48932728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116208074	chr6:48932767-48932768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185364669	chr6:48932790-48932791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550685574	chr6:48932816-48932817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569363261	chr6:48932842-48932843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536344767	chr6:48932844-48932845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189677687	chr6:48932851-48932852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374340838	chr6:48932881-48932882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200894708	chr6:48932892-48932893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534483426	chr6:48932995-48932996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566341320	chr6:48933009-48933010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115142457	chr6:48933014-48933015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558445713	chr6:48933068-48933069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9463448	chr6:48933070-48933071	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537878724	chr6:48933138-48933139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561079643	chr6:48933418-48933419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112867772	chr6:48933426-48933427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111522682	chr6:48933430-48933431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574737904	chr6:48933440-48933441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112315214	chr6:48933488-48933489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7756091	chr6:48933503-48933504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573478764	chr6:48933536-48933537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540795870	chr6:48933624-48933625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73485182	chr6:48933645-48933646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532674831	chr6:48933651-48933652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562861982	chr6:48933659-48933660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551001556	chr6:48933664-48933665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562732121	chr6:48933671-48933672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148186796	chr6:48933683-48933684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548281689	chr6:48933731-48933732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141164070	chr6:48933737-48933738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115193864	chr6:48933770-48933771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552068939	chr6:48933787-48933788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185193202	chr6:48933788-48933789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188193057	chr6:48933805-48933806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113353710	chr6:48933830-48933831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139240835	chr6:48933841-48933842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62411446	chr6:48933873-48933874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs13204786	chr6:48933888-48933889	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35059425	chr6:48933971-48933972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527903996	chr6:48934048-48934049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13194120	chr6:48934128-48934129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540858979	chr6:48934134-48934135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558882747	chr6:48934136-48934137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144094139	chr6:48934185-48934186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544590404	chr6:48934222-48934223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563153081	chr6:48934229-48934230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530061264	chr6:48934233-48934234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48933000-48933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:48933400-48934000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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