Variant report

Variant	nsv481862
Chromosome Location	chr6:162497518-162640247
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
2	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
3	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
4	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
7	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
8	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
9	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
10	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
11	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
12	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
13	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
14	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
15	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
16	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
17	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:

No data

Extended variants
information (count: 5242 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5242 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560090327	chr6:162497559-162497560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561674039	chr6:162497618-162497619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527478621	chr6:162497620-162497621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9456739	chr6:162497631-162497632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545765799	chr6:162497706-162497707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149043505	chr6:162497707-162497708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183837308	chr6:162497720-162497721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531737693	chr6:162497730-162497731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556283012	chr6:162497749-162497750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113801479	chr6:162497797-162497798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533024801	chr6:162497824-162497825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111467251	chr6:162497827-162497828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568868567	chr6:162497858-162497859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181434918	chr6:162497870-162497871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373564031	chr6:162497873-162497874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79757941	chr6:162497890-162497891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112247885	chr6:162497891-162497892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9355978	chr6:162497892-162497893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77944729	chr6:162497903-162497904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554370957	chr6:162497917-162497918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571076820	chr6:162497941-162497942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540090246	chr6:162498016-162498017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556905905	chr6:162498027-162498028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575981023	chr6:162498047-162498048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370358488	chr6:162498068-162498069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555419945	chr6:162498122-162498123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572081051	chr6:162498140-162498141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185670426	chr6:162498312-162498313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563913840	chr6:162498319-162498320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190126656	chr6:162498330-162498331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543275435	chr6:162498351-162498352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563478538	chr6:162498352-162498353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143026070	chr6:162498399-162498400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148227699	chr6:162498405-162498406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568455796	chr6:162498406-162498407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181751634	chr6:162498462-162498463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2023059	chr6:162498463-162498464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141215274	chr6:162498490-162498491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112465995	chr6:162498491-162498492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139169180	chr6:162498509-162498510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199792355	chr6:162498518-162498519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556893706	chr6:162498568-162498569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9347584	chr6:162498581-162498582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs147092493	chr6:162498592-162498593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551635279	chr6:162498640-162498641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572029961	chr6:162498661-162498662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540680536	chr6:162498667-162498668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9456740	chr6:162498676-162498677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs530943730	chr6:162498702-162498703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577409021	chr6:162498729-162498730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr6:162498000-162498200	Enhancers	Esophagus	oesophagus
4	chr6:162499200-162499400	Enhancers	HMEC	breast
5	chr6:162499200-162499600	Enhancers	NHEK	skin
6	chr6:162499400-162499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:162501200-162502000	Enhancers	HMEC	breast
8	chr6:162501400-162502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:162504400-162505000	Enhancers	Fetal Heart	heart
10	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:162511400-162512600	Enhancers	HMEC	breast
13	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
14	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:162511400-162512800	Enhancers	HSMM	muscle
17	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
18	chr6:162511600-162512200	Enhancers	A549	lung
19	chr6:162511600-162512200	Enhancers	NHEK	skin
20	chr6:162511600-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:162511600-162512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:162511600-162512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:162511600-162512800	Enhancers	NH-A	brain
24	chr6:162512000-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:162512000-162512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
27	chr6:162513600-162524800	Weak transcription	Ovary	ovary
28	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea
29	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
30	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
31	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
32	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:162520200-162521000	Enhancers	NH-A	brain
35	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:162520200-162521400	Enhancers	HMEC	breast
37	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
38	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:162520400-162521200	Enhancers	A549	lung
40	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr6:162520400-162521400	Enhancers	NHEK	skin
42	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr6:162520400-162521600	Enhancers	HSMM	muscle
44	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:162521000-162521400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:162521000-162521400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:162521000-162521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:162521000-162521400	Enhancers	HSMMtube	muscle

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