Variant report

Variant	nsv886848
Chromosome Location	chr6:162499177-162789197
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
2	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
3	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
4	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
5	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
6	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
7	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
8	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
9	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
10	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
11	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
12	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
13	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
14	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
15	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
16	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
17	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
18	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
19	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
20	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
21	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
22	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
23	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
24	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
25	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
26	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
27	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
28	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
29	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
30	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:

No data

Extended variants
information (count: 11323 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:11323 , 50 per page) page: 1 2 3 4 5 6 7 ... 227

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4412175	chr6:162499177-162499178	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201076635	chr6:162499189-162499190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74717805	chr6:162499190-162499191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35039475	chr6:162499195-162499196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79597924	chr6:162499214-162499215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559639008	chr6:162499217-162499218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553516075	chr6:162499241-162499242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572468163	chr6:162499243-162499244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368928146	chr6:162499248-162499249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77361056	chr6:162499259-162499260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533431901	chr6:162499283-162499284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116588054	chr6:162499292-162499293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550272608	chr6:162499305-162499306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185256897	chr6:162499310-162499311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9365365	chr6:162499315-162499316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189676848	chr6:162499316-162499317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149357361	chr6:162499408-162499409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182644245	chr6:162499430-162499431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188165793	chr6:162499436-162499437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144668370	chr6:162499455-162499456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192604075	chr6:162499477-162499478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557026838	chr6:162499479-162499480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562089168	chr6:162499509-162499510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9355382	chr6:162499520-162499521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547556291	chr6:162499543-162499544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552970474	chr6:162499546-162499547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9365366	chr6:162499559-162499560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9365367	chr6:162499613-162499614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9346897	chr6:162499639-162499640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs183728776	chr6:162499645-162499646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188223284	chr6:162499649-162499650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563848870	chr6:162499727-162499728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200358309	chr6:162499765-162499766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34726938	chr6:162499768-162499769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9346898	chr6:162499769-162499770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192534528	chr6:162499774-162499775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78692175	chr6:162499799-162499800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75398739	chr6:162499818-162499819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9365369	chr6:162499843-162499844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575695928	chr6:162499857-162499858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202081192	chr6:162499889-162499890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570867776	chr6:162499891-162499892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9365370	chr6:162499893-162499894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs202120209	chr6:162499914-162499915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537416750	chr6:162499917-162499918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200330108	chr6:162499918-162499919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs66769670	chr6:162499919-162499920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34074796	chr6:162499921-162499922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372547877	chr6:162499944-162499945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550400065	chr6:162499952-162499953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	19805367	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162488200-162501200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:162496800-162504400	Weak transcription	Fetal Heart	heart
3	chr6:162499200-162499400	Enhancers	HMEC	breast
4	chr6:162499200-162499600	Enhancers	NHEK	skin
5	chr6:162499400-162499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:162501200-162502000	Enhancers	HMEC	breast
7	chr6:162501400-162502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:162504400-162505000	Enhancers	Fetal Heart	heart
9	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:162511400-162512600	Enhancers	HMEC	breast
12	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
13	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:162511400-162512800	Enhancers	HSMM	muscle
16	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
17	chr6:162511600-162512200	Enhancers	A549	lung
18	chr6:162511600-162512200	Enhancers	NHEK	skin
19	chr6:162511600-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:162511600-162512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:162511600-162512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:162511600-162512800	Enhancers	NH-A	brain
23	chr6:162512000-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:162512000-162512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
26	chr6:162513600-162524800	Weak transcription	Ovary	ovary
27	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea
28	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
29	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
30	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
31	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:162520200-162521000	Enhancers	NH-A	brain
34	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:162520200-162521400	Enhancers	HMEC	breast
36	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
37	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:162520400-162521200	Enhancers	A549	lung
39	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr6:162520400-162521400	Enhancers	NHEK	skin
41	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr6:162520400-162521600	Enhancers	HSMM	muscle
43	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:162521000-162521400	Enhancers	HSMMtube	muscle
50	chr6:162521000-162521400	Flanking Active TSS	NH-A	brain

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