Variant report

Variant	nsv603039
Chromosome Location	chr6:48928544-48942969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 562 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16878481	chr6:48928544-48928545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542147562	chr6:48928546-48928547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560371772	chr6:48928547-48928548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112613267	chr6:48928593-48928594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111704914	chr6:48928625-48928626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202139391	chr6:48928633-48928634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74422001	chr6:48928659-48928660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76007361	chr6:48928660-48928661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544849393	chr6:48928676-48928677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187554424	chr6:48928682-48928683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147532324	chr6:48928683-48928684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372151358	chr6:48928687-48928688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550581931	chr6:48928712-48928713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549996361	chr6:48928732-48928733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375436978	chr6:48928748-48928749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12209867	chr6:48928771-48928772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs192599356	chr6:48928777-48928778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112748638	chr6:48928783-48928784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111552928	chr6:48928786-48928787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531192663	chr6:48928814-48928815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566856195	chr6:48928853-48928854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184800022	chr6:48928929-48928930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539457143	chr6:48929020-48929021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557773547	chr6:48929085-48929086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569763272	chr6:48929092-48929093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536741973	chr6:48929114-48929115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545411302	chr6:48929122-48929123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574941464	chr6:48929147-48929148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188110468	chr6:48929152-48929153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192683677	chr6:48929168-48929169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72863632	chr6:48929186-48929187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375254545	chr6:48929201-48929202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34007350	chr6:48929230-48929231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183791416	chr6:48929304-48929305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373336482	chr6:48929347-48929348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6906485	chr6:48929363-48929364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75920866	chr6:48929385-48929386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531873836	chr6:48929392-48929393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543561980	chr6:48929402-48929403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs36068984	chr6:48929442-48929443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189143657	chr6:48929457-48929458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529303815	chr6:48929491-48929492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529100862	chr6:48929546-48929547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547583218	chr6:48929590-48929591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566016177	chr6:48929608-48929609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533245366	chr6:48929621-48929622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551440879	chr6:48929636-48929637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192536688	chr6:48929657-48929658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184221705	chr6:48929694-48929695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369229500	chr6:48929743-48929744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6 , 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	chr6:48928800-48930000	Enhancers	Hela-S3	cervix
3	chr6:48929400-48930800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:48929600-48930000	Enhancers	Fetal Lung	lung
5	chr6:48933000-48933600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:48933400-48934000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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