Variant report

Variant	nsv464090
Chromosome Location	chr6:162475434-162530070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
2	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
3	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
4	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
7	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:

Extended variants
information (count: 2044 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2044 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9365364	chr6:162475434-162475435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527346336	chr6:162475456-162475457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114041857	chr6:162475567-162475568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552458766	chr6:162475581-162475582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147228829	chr6:162475648-162475649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570684949	chr6:162475657-162475658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117874329	chr6:162475722-162475723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574318867	chr6:162475750-162475751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567500112	chr6:162475798-162475799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542257797	chr6:162475864-162475865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140604388	chr6:162475877-162475878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186386883	chr6:162475926-162475927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374813630	chr6:162475941-162475942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144230405	chr6:162475950-162475951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530570461	chr6:162475981-162475982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550759951	chr6:162475984-162475985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145451920	chr6:162476000-162476001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189417433	chr6:162476015-162476016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549093807	chr6:162476065-162476066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568527431	chr6:162476066-162476067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2023045	chr6:162476069-162476070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9456736	chr6:162476089-162476090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572616710	chr6:162476097-162476098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558237944	chr6:162476157-162476158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571780008	chr6:162476169-162476170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79579080	chr6:162476171-162476172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142549525	chr6:162476184-162476185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557582562	chr6:162476185-162476186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574231859	chr6:162476208-162476209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545841661	chr6:162476215-162476216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373756967	chr6:162476216-162476217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558407532	chr6:162476235-162476236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9355380	chr6:162476243-162476244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576710513	chr6:162476250-162476251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181971766	chr6:162476260-162476261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562850222	chr6:162476326-162476327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147488648	chr6:162476328-162476329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553404114	chr6:162476339-162476340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572475013	chr6:162476451-162476452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186124990	chr6:162476483-162476484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564595810	chr6:162476488-162476489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377397471	chr6:162476534-162476535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113856172	chr6:162476546-162476547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115638063	chr6:162476547-162476548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544185216	chr6:162476565-162476566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151091087	chr6:162476576-162476577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13217335	chr6:162476657-162476658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13191078	chr6:162476705-162476706	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs536720277	chr6:162476740-162476741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183454031	chr6:162476748-162476749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162470200-162479400	Weak transcription	Ovary	ovary
2	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
4	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
6	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
7	chr6:162475200-162478200	Weak transcription	Liver	Liver
8	chr6:162476000-162476400	Weak transcription	Pancreas	Pancrea
9	chr6:162476200-162477400	Enhancers	A549	lung
10	chr6:162476400-162477600	Enhancers	Right Atrium	heart
11	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
12	chr6:162476600-162476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:162476600-162476800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:162476800-162477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:162476800-162477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:162476800-162477400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:162476800-162478200	Enhancers	Right Ventricle	heart
20	chr6:162476800-162478600	Enhancers	Fetal Heart	heart
21	chr6:162477000-162477200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:162477000-162477200	Bivalent Enhancer	HepG2	liver
23	chr6:162477000-162477400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr6:162477000-162477400	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:162477000-162478200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:162477200-162477600	Enhancers	HepG2	liver
27	chr6:162477200-162477800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:162477200-162478200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:162477200-162478800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:162477400-162477600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:162477400-162477800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr6:162477400-162478200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:162477400-162478200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:162477400-162478200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:162477400-162478800	Flanking Active TSS	A549	lung
36	chr6:162477600-162478000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:162477600-162478000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr6:162477600-162478000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:162477600-162478400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:162477600-162478400	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr6:162477600-162478400	Flanking Active TSS	HepG2	liver
42	chr6:162477600-162478400	Enhancers	NHDF-Ad	bronchial
43	chr6:162477600-162478600	Enhancers	NH-A	brain
44	chr6:162477600-162479000	Weak transcription	Right Atrium	heart
45	chr6:162477800-162478000	Enhancers	Psoas Muscle	Psoas
46	chr6:162477800-162478200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:162477800-162478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:162477800-162478200	Enhancers	Fetal Stomach	stomach
49	chr6:162477800-162478400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:162477800-162478400	Active TSS	Stomach Smooth Muscle	stomach

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