Variant report

Variant	nsv521530
Chromosome Location	chr6:49136963-49169337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49165091..49165837-chr6:49377428..49378325,3	MCF-7	breast:
2	chr6:49160449..49163379-chr6:49168376..49170816,2	K562	blood:
3	chr6:49160449..49163379-chr6:49168376..49170816,2	K562	blood:

Extended variants
information (count: 778 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12215423	chr6:49136963-49136964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530395637	chr6:49137072-49137073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150548379	chr6:49137090-49137091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560583443	chr6:49137095-49137096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529539986	chr6:49137107-49137108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548115537	chr6:49137130-49137131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530983873	chr6:49137148-49137149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140391972	chr6:49137163-49137164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540034146	chr6:49137178-49137179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144447694	chr6:49137191-49137192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570186676	chr6:49137197-49137198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147399027	chr6:49137198-49137199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370492774	chr6:49137199-49137200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567696448	chr6:49137225-49137226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139789079	chr6:49137230-49137231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116347117	chr6:49137271-49137272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113104701	chr6:49137289-49137290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112606920	chr6:49137295-49137296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60018305	chr6:49137304-49137305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562070075	chr6:49137315-49137316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114854960	chr6:49137344-49137345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560549393	chr6:49137345-49137346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528130121	chr6:49137361-49137362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541323749	chr6:49137475-49137476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559999303	chr6:49137480-49137481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149948245	chr6:49137501-49137502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552021413	chr6:49137587-49137588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145713003	chr6:49137630-49137631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111325733	chr6:49137651-49137652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112841395	chr6:49137657-49137658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28667342	chr6:49137671-49137672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567505785	chr6:49137710-49137711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374499910	chr6:49137711-49137712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571013738	chr6:49137735-49137736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539790338	chr6:49137743-49137744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564343254	chr6:49137746-49137747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368449826	chr6:49137761-49137762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72243119	chr6:49137766-49137767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535018685	chr6:49137775-49137776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368531265	chr6:49137778-49137779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552962219	chr6:49137795-49137796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148916407	chr6:49137804-49137805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142790790	chr6:49137808-49137809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73431763	chr6:49137838-49137839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575143279	chr6:49137840-49137841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553227696	chr6:49137861-49137862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542305759	chr6:49137906-49137907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141288162	chr6:49137953-49137954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572703686	chr6:49137958-49137959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540246557	chr6:49137965-49137966	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49133000-49158400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links