Variant report

Variant	nsv481958
Chromosome Location	chr6:163055766-163128534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163117200..163118947-chr6:163123211..163125034,2	K562	blood:
2	chr6:163111769..163114753-chr6:163116374..163118174,2	K562	blood:
3	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:
4	chr6:163111769..163114753-chr6:163116374..163118174,2	K562	blood:
5	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
6	chr6:163103043..163104996-chr6:163109382..163111025,2	K562	blood:
7	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:
8	chr6:163103043..163104996-chr6:163109382..163111025,2	K562	blood:
9	chr6:163100762..163102270-chr6:163108804..163111519,2	K562	blood:
10	chr6:163117200..163118947-chr6:163123211..163125034,2	K562	blood:
11	chr6:163100762..163102270-chr6:163108804..163111519,2	K562	blood:
12	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:

No data

Extended variants
information (count: 2390 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2390 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11756579	chr6:163055768-163055769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs35443919	chr6:163055804-163055805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs75937636	chr6:163055805-163055806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs137934612	chr6:163055871-163055872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563260140	chr6:163055875-163055876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376687124	chr6:163055876-163055877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2849558	chr6:163055906-163055907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs542242519	chr6:163056000-163056001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374601837	chr6:163056061-163056062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142961901	chr6:163056147-163056148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528379605	chr6:163056199-163056200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538586147	chr6:163056340-163056341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571401013	chr6:163056400-163056401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557499550	chr6:163056554-163056555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376992224	chr6:163056568-163056569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189415414	chr6:163056577-163056578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79757921	chr6:163056592-163056593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs67852948	chr6:163056628-163056629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533632809	chr6:163056634-163056635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146109860	chr6:163056643-163056644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570162659	chr6:163056708-163056709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59277455	chr6:163056712-163056713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538885543	chr6:163056731-163056732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71567665	chr6:163056828-163056829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554101051	chr6:163056871-163056872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558300668	chr6:163056941-163056942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112772619	chr6:163056952-163056953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2226769	chr6:163056953-163056954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141561590	chr6:163056960-163056961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114856953	chr6:163057003-163057004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150899621	chr6:163057057-163057058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542175684	chr6:163057078-163057079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181775326	chr6:163057115-163057116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183745496	chr6:163057129-163057130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573298886	chr6:163057163-163057164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58613048	chr6:163057191-163057192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5881484	chr6:163057192-163057193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397828386	chr6:163057198-163057199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188141378	chr6:163057247-163057248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565220663	chr6:163057261-163057262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2077934	chr6:163057269-163057270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs34689944	chr6:163057287-163057288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397888011	chr6:163057298-163057299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565941449	chr6:163057382-163057383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570040425	chr6:163057411-163057412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6915441	chr6:163057419-163057420	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7451729	chr6:163057451-163057452	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181564794	chr6:163057501-163057502	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73597921	chr6:163057508-163057509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs373216376	chr6:163057553-163057554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163044000-163056800	Weak transcription	Left Ventricle	heart
2	chr6:163047200-163056800	Weak transcription	Right Ventricle	heart
3	chr6:163052800-163065000	Weak transcription	Psoas Muscle	Psoas
4	chr6:163053200-163057200	Weak transcription	Adipose Nuclei	Adipose
5	chr6:163053400-163057000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:163054800-163061800	Weak transcription	Aorta	Aorta
7	chr6:163055400-163055800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:163055600-163056400	Weak transcription	Fetal Kidney	kidney
9	chr6:163055600-163056800	Weak transcription	Pancreas	Pancrea
10	chr6:163055600-163057800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:163055800-163056800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:163056400-163056600	Enhancers	Fetal Kidney	kidney
13	chr6:163056600-163057400	Weak transcription	Fetal Kidney	kidney
14	chr6:163056800-163057000	Enhancers	Left Ventricle	heart
15	chr6:163056800-163057000	Enhancers	Pancreas	Pancrea
16	chr6:163056800-163057000	Enhancers	Right Atrium	heart
17	chr6:163056800-163057000	Enhancers	Right Ventricle	heart
18	chr6:163056800-163057400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:163056800-163057600	Enhancers	Fetal Heart	heart
20	chr6:163056800-163058000	Enhancers	Ovary	ovary
21	chr6:163056800-163058600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:163057000-163057400	Weak transcription	Left Ventricle	heart
23	chr6:163057000-163057400	Weak transcription	Right Ventricle	heart
24	chr6:163057000-163057800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:163057000-163071200	Weak transcription	Right Atrium	heart
26	chr6:163057200-163057600	Enhancers	Adipose Nuclei	Adipose
27	chr6:163057200-163057600	Enhancers	Stomach Smooth Muscle	stomach
28	chr6:163057400-163057600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr6:163057400-163057800	Enhancers	Fetal Kidney	kidney
30	chr6:163057400-163058000	Enhancers	Left Ventricle	heart
31	chr6:163057400-163058000	Enhancers	Right Ventricle	heart
32	chr6:163057600-163057800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr6:163057600-163061600	Weak transcription	Fetal Heart	heart
34	chr6:163057800-163058000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:163057800-163058000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:163057800-163058000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr6:163058000-163058600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr6:163058000-163060800	Weak transcription	Ovary	ovary
39	chr6:163058000-163065200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:163058600-163065000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:163058600-163065000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:163059000-163059600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:163059400-163059800	Enhancers	Fetal Lung	lung
44	chr6:163060200-163060400	Enhancers	Fetal Lung	lung
45	chr6:163061600-163062000	Enhancers	Fetal Heart	heart
46	chr6:163061800-163062000	Enhancers	Aorta	Aorta
47	chr6:163065000-163065200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:163065000-163065400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:163065000-163065600	Enhancers	Left Ventricle	heart
50	chr6:163065000-163065600	Enhancers	Psoas Muscle	Psoas

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