Variant report

Variant	nsv970041
Chromosome Location	chr6:54407511-54424187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 205 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139053773	chr6:54407518-54407519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527399790	chr6:54407544-54407545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370573276	chr6:54407569-54407570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75429601	chr6:54407584-54407585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144995030	chr6:54407599-54407600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373238024	chr6:54407610-54407611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539072690	chr6:54407613-54407614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549347162	chr6:54407614-54407615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575263058	chr6:54407666-54407667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12664985	chr6:54407676-54407677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12664997	chr6:54407751-54407752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs577215259	chr6:54407759-54407760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375111059	chr6:54407789-54407790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533093741	chr6:54407810-54407811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572174120	chr6:54407826-54407827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386701294	chr6:54407835-54407836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192870243	chr6:54407836-54407837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184114211	chr6:54407839-54407840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs683560	chr6:54407863-54407864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs562897701	chr6:54407864-54407865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576667352	chr6:54407866-54407867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542467822	chr6:54407868-54407869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114154785	chr6:54407883-54407884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188630002	chr6:54407884-54407885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147644957	chr6:54407898-54407899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75405714	chr6:54407913-54407914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140566488	chr6:54407920-54407921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532851042	chr6:54407930-54407931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs522139	chr6:54407953-54407954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191893030	chr6:54407959-54407960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529192895	chr6:54407968-54407969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34657929	chr6:54408058-54408059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537937194	chr6:54408090-54408091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112801247	chr6:54408096-54408097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565816375	chr6:54408109-54408110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534849865	chr6:54408125-54408126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12207092	chr6:54408143-54408144	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138868514	chr6:54408186-54408187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57707846	chr6:54408204-54408205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539895280	chr6:54408212-54408213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373776098	chr6:54408233-54408234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77294371	chr6:54408243-54408244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542178365	chr6:54408261-54408262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199911691	chr6:54408298-54408299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs57388623	chr6:54408317-54408318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535815801	chr6:54408406-54408407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116178919	chr6:54408459-54408460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541265432	chr6:54408514-54408515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs605743	chr6:54408579-54408580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9367578	chr6:54408598-54408599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Breast cancer	21785460	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54407400-54411600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:54411600-54411800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:54424000-54426200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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