Variant report

Variant	nsv1031992
Chromosome Location	chr6:55365469-55391815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55390675..55392661-chr6:55393968..55396967,2	K562	blood:
2	chr18:68082649..68083606-chr6:55385827..55386468,2	MCF-7	breast:
3	chr6:55377485..55380117-chr6:55381946..55384931,2	MCF-7	breast:
4	chr6:55377485..55380117-chr6:55381946..55384931,2	MCF-7	breast:
5	chr6:55378223..55380878-chr6:55387259..55389962,2	MCF-7	breast:
6	chr6:55377472..55378318-chr6:55806611..55807235,2	MCF-7	breast:
7	chr6:55378223..55380878-chr6:55387259..55389962,2	MCF-7	breast:

Extended variants
information (count: 556 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:556 , 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	rs371547998	chr6:55376446-55376447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116333734	chr6:55376525-55376526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564350178	chr6:55376575-55376576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10223668	chr6:55376586-55376587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550229161	chr6:55376602-55376603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570295526	chr6:55376632-55376633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144431445	chr6:55376636-55376637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28709795	chr6:55376700-55376701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139425569	chr6:55376701-55376702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77161616	chr6:55376745-55376746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535114631	chr6:55376759-55376760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73449013	chr6:55376767-55376768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs79109715	chr6:55376804-55376805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537214040	chr6:55376837-55376838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28655532	chr6:55376932-55376933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573856539	chr6:55376936-55376937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565088777	chr6:55376962-55376963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542302860	chr6:55377058-55377059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10948936	chr6:55377066-55377067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191553686	chr6:55377101-55377102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62405365	chr6:55377125-55377126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113550872	chr6:55377137-55377138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564610267	chr6:55377166-55377167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567345162	chr6:55377169-55377170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112850610	chr6:55377218-55377219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536235877	chr6:55377221-55377222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376134376	chr6:55377255-55377256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550290408	chr6:55377331-55377332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184390992	chr6:55377333-55377334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187230038	chr6:55377349-55377350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563856707	chr6:55377359-55377360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13218220	chr6:55377402-55377403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549151381	chr6:55377444-55377445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59077790	chr6:55377467-55377468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539077425	chr6:55377524-55377525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375734435	chr6:55377529-55377530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558796518	chr6:55377555-55377556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs45601932	chr6:55377556-55377557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192502844	chr6:55377586-55377587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567065126	chr6:55377611-55377612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4537142	chr6:55377664-55377665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs140509707	chr6:55377665-55377666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554884776	chr6:55377687-55377688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557114962	chr6:55377733-55377734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142164371	chr6:55377740-55377741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116143230	chr6:55377745-55377746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552801811	chr6:55377765-55377766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200483234	chr6:55377782-55377783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386701384	chr6:55377783-55377784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4144577	chr6:55377785-55377786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55376400-55399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:55376800-55396400	Weak transcription	Left Ventricle	heart
3	chr6:55384200-55384400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:55384400-55410200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:55385800-55386200	Enhancers	Fetal Lung	lung
6	chr6:55387400-55388200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:55389200-55390400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:55389400-55390400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:55389400-55390600	Enhancers	HUES48 Cell Line	embryonic stem cell

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