Variant report

Variant	nsv481953
Chromosome Location	chr6:162503278-162843243
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
2	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
3	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
4	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
5	chr6:162820265..162823089-chr6:162827852..162829559,2	K562	blood:
6	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
7	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
8	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
9	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
10	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
11	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
12	chr6:162799485..162803733-chr6:162804296..162807777,5	K562	blood:
13	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
14	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
15	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
16	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
17	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
18	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
19	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
20	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
21	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
22	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
23	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
24	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
25	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
26	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
27	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
28	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
29	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
30	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
31	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
32	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
33	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
34	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:

No data

Extended variants
information (count: 13481 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:13481 , 50 per page) page: 1 2 3 4 5 6 7 ... 270

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555077570	chr6:162503282-162503283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570676242	chr6:162503284-162503285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144022034	chr6:162503287-162503288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11757662	chr6:162503288-162503289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184540151	chr6:162503290-162503291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188983072	chr6:162503334-162503335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543701490	chr6:162503362-162503363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73032261	chr6:162503369-162503370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563474871	chr6:162503372-162503373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531768869	chr6:162503386-162503387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374570149	chr6:162503392-162503393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548683030	chr6:162503404-162503405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562212036	chr6:162503421-162503422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531008448	chr6:162503422-162503423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142206138	chr6:162503448-162503449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543248027	chr6:162503571-162503572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546939107	chr6:162503612-162503613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571060862	chr6:162503652-162503653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193002817	chr6:162503661-162503662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528785380	chr6:162503674-162503675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550466462	chr6:162503774-162503775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184709237	chr6:162503817-162503818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536753186	chr6:162503956-162503957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535461821	chr6:162503965-162503966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76442782	chr6:162503970-162503971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78409585	chr6:162503980-162503981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534420432	chr6:162503982-162503983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190372718	chr6:162504048-162504049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139413744	chr6:162504049-162504050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543339549	chr6:162504066-162504067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201031413	chr6:162504089-162504090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9458454	chr6:162504112-162504113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576358257	chr6:162504114-162504115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200129080	chr6:162504120-162504121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542286891	chr6:162504149-162504150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9458455	chr6:162504168-162504169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527741206	chr6:162504176-162504177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556225436	chr6:162504178-162504179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541559507	chr6:162504186-162504187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564488506	chr6:162504206-162504207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533609408	chr6:162504234-162504235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550185837	chr6:162504240-162504241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181452808	chr6:162504263-162504264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528848195	chr6:162504320-162504321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7747241	chr6:162504377-162504378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147601674	chr6:162504413-162504414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184229350	chr6:162504446-162504447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7747287	chr6:162504454-162504455	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571334341	chr6:162504494-162504495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537301588	chr6:162504556-162504557	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:1079 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162496800-162504400	Weak transcription	Fetal Heart	heart
2	chr6:162504400-162505000	Enhancers	Fetal Heart	heart
3	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:162511400-162512600	Enhancers	HMEC	breast
6	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
7	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:162511400-162512800	Enhancers	HSMM	muscle
10	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
11	chr6:162511600-162512200	Enhancers	A549	lung
12	chr6:162511600-162512200	Enhancers	NHEK	skin
13	chr6:162511600-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:162511600-162512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:162511600-162512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:162511600-162512800	Enhancers	NH-A	brain
17	chr6:162512000-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:162512000-162512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
20	chr6:162513600-162524800	Weak transcription	Ovary	ovary
21	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea
22	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
23	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
24	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
25	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:162520200-162521000	Enhancers	NH-A	brain
28	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:162520200-162521400	Enhancers	HMEC	breast
30	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
31	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:162520400-162521200	Enhancers	A549	lung
33	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr6:162520400-162521400	Enhancers	NHEK	skin
35	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:162520400-162521600	Enhancers	HSMM	muscle
37	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:162521000-162521400	Enhancers	HSMMtube	muscle
44	chr6:162521000-162521400	Flanking Active TSS	NH-A	brain
45	chr6:162521000-162521400	Enhancers	Osteobl	bone
46	chr6:162521800-162527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:162524800-162525200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:162524800-162525200	Enhancers	Ovary	ovary
49	chr6:162524800-162525400	Enhancers	Gastric	stomach
50	chr6:162525200-162539800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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