Variant report

Variant	nsv481702
Chromosome Location	chr6:162496130-162764412
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

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

No data

Extended variants
information (count: 10687 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:10687 , 50 per page) page: 1 2 3 4 5 6 7 ... 214

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575424623	chr6:162496131-162496132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544838064	chr6:162496202-162496203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371938394	chr6:162496254-162496255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186491975	chr6:162496288-162496289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201404599	chr6:162496337-162496338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2187206	chr6:162496356-162496357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191687063	chr6:162496373-162496374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531140518	chr6:162496391-162496392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368692607	chr6:162496399-162496400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540587790	chr6:162496418-162496419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111714198	chr6:162496465-162496466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183977112	chr6:162496490-162496491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187510069	chr6:162496520-162496521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9355381	chr6:162496528-162496529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144061564	chr6:162496533-162496534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113966638	chr6:162496534-162496535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111854151	chr6:162496560-162496561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531510851	chr6:162496561-162496562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144246371	chr6:162496581-162496582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369111078	chr6:162496586-162496587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148705647	chr6:162496605-162496606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142357346	chr6:162496606-162496607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547377996	chr6:162496614-162496615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9355977	chr6:162496618-162496619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs193072534	chr6:162496623-162496624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143844324	chr6:162496633-162496634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375493386	chr6:162496648-162496649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558624633	chr6:162496678-162496679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185653457	chr6:162496679-162496680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs151285915	chr6:162496684-162496685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190716507	chr6:162496686-162496687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555113342	chr6:162496689-162496690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139595216	chr6:162496708-162496709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201956533	chr6:162496709-162496710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566316435	chr6:162496764-162496765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11757111	chr6:162496788-162496789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113720437	chr6:162496811-162496812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560804677	chr6:162496826-162496827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62436044	chr6:162496835-162496836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562552850	chr6:162496912-162496913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113299511	chr6:162496917-162496918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531400363	chr6:162496918-162496919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73032235	chr6:162496921-162496922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs111883624	chr6:162496953-162496954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561874654	chr6:162496967-162496968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527504005	chr6:162496991-162496992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201642343	chr6:162496997-162496998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577467302	chr6:162497010-162497011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112681779	chr6:162497024-162497025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547662000	chr6:162497075-162497076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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

Chromatin state (count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162488200-162501200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:162495800-162496400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:162496000-162496400	Weak transcription	Fetal Brain Male	brain
4	chr6:162496000-162496800	Enhancers	Fetal Heart	heart
5	chr6:162496400-162496800	Enhancers	Fetal Brain Male	brain
6	chr6:162496800-162504400	Weak transcription	Fetal Heart	heart
7	chr6:162498000-162498200	Enhancers	Esophagus	oesophagus
8	chr6:162499200-162499400	Enhancers	HMEC	breast
9	chr6:162499200-162499600	Enhancers	NHEK	skin
10	chr6:162499400-162499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:162501200-162502000	Enhancers	HMEC	breast
12	chr6:162501400-162502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:162504400-162505000	Enhancers	Fetal Heart	heart
14	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr6:162511400-162512600	Enhancers	HMEC	breast
17	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
18	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:162511400-162512800	Enhancers	HSMM	muscle
21	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
22	chr6:162511600-162512200	Enhancers	A549	lung
23	chr6:162511600-162512200	Enhancers	NHEK	skin
24	chr6:162511600-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:162511600-162512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:162511600-162512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:162511600-162512800	Enhancers	NH-A	brain
28	chr6:162512000-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:162512000-162512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
31	chr6:162513600-162524800	Weak transcription	Ovary	ovary
32	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea
33	chr6:162514800-162517600	Weak transcription	Aorta	Aorta
34	chr6:162517600-162517800	ZNF genes & repeats	Aorta	Aorta
35	chr6:162517800-162525600	Weak transcription	Aorta	Aorta
36	chr6:162518800-162521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:162520000-162521800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:162520200-162521000	Enhancers	NH-A	brain
39	chr6:162520200-162521400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:162520200-162521400	Enhancers	HMEC	breast
41	chr6:162520200-162521400	Enhancers	NHDF-Ad	bronchial
42	chr6:162520200-162521600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:162520400-162521200	Enhancers	A549	lung
44	chr6:162520400-162521400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr6:162520400-162521400	Enhancers	NHEK	skin
46	chr6:162520400-162521600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:162520400-162521600	Enhancers	HSMM	muscle
48	chr6:162520600-162521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:162520800-162521200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:162521000-162521400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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