Variant report

Variant	nsv1018384
Chromosome Location	chr6:162482580-162643509
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
2	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
3	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
4	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
5	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
6	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
7	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
8	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
9	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
10	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
11	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
12	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
13	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
14	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
15	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
16	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
17	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
18	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:

No data

Extended variants
information (count: 6034 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:6034 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537249803	chr6:162482635-162482636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192885875	chr6:162482680-162482681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557588945	chr6:162482683-162482684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185796725	chr6:162482691-162482692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190473315	chr6:162482693-162482694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370005870	chr6:162482706-162482707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181817225	chr6:162482750-162482751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563837527	chr6:162482751-162482752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530984831	chr6:162482760-162482761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575350728	chr6:162482761-162482762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544085795	chr6:162482822-162482823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549207991	chr6:162482832-162482833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561227226	chr6:162482837-162482838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149324572	chr6:162482848-162482849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543027447	chr6:162482862-162482863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559748799	chr6:162482869-162482870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528516929	chr6:162482928-162482929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80124447	chr6:162482948-162482949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144579946	chr6:162482989-162482990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531121587	chr6:162482992-162482993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77478826	chr6:162483009-162483010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567600751	chr6:162483072-162483073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536585001	chr6:162483125-162483126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148057990	chr6:162483178-162483179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566104575	chr6:162483239-162483240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183826867	chr6:162483255-162483256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141654872	chr6:162483503-162483504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575286073	chr6:162483510-162483511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544372476	chr6:162483517-162483518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377091726	chr6:162483530-162483531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554502330	chr6:162483535-162483536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4582353	chr6:162483551-162483552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540504962	chr6:162483565-162483566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112351766	chr6:162483596-162483597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9295182	chr6:162483614-162483615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9458444	chr6:162483652-162483653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188093292	chr6:162483677-162483678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145933731	chr6:162483717-162483718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374111322	chr6:162483740-162483741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530939180	chr6:162483764-162483765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181422522	chr6:162483792-162483793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376535504	chr6:162483799-162483800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9456737	chr6:162483885-162483886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530254921	chr6:162483904-162483905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546843580	chr6:162483905-162483906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9456738	chr6:162483954-162483955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs368273617	chr6:162483957-162483958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538620878	chr6:162484001-162484002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186307797	chr6:162484014-162484015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568917740	chr6:162484016-162484017	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:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162478000-162482600	Weak transcription	Psoas Muscle	Psoas
2	chr6:162478800-162483400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:162479600-162482600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:162480000-162494600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:162481200-162482800	Weak transcription	A549	lung
6	chr6:162482000-162483200	Enhancers	Fetal Heart	heart
7	chr6:162482400-162482600	Enhancers	Pancreas	Pancrea
8	chr6:162482600-162482800	Enhancers	Psoas Muscle	Psoas
9	chr6:162482600-162484000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr6:162482800-162483200	Weak transcription	Psoas Muscle	Psoas
11	chr6:162482800-162483400	Enhancers	A549	lung
12	chr6:162483000-162483400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:162483200-162483800	Enhancers	Psoas Muscle	Psoas
14	chr6:162483400-162483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:162483400-162484800	Weak transcription	A549	lung
16	chr6:162483800-162485000	Weak transcription	Psoas Muscle	Psoas
17	chr6:162484000-162487800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:162484800-162485200	Enhancers	A549	lung
19	chr6:162485000-162485200	Enhancers	Psoas Muscle	Psoas
20	chr6:162488000-162488200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:162488200-162501200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:162489400-162489800	Enhancers	Psoas Muscle	Psoas
23	chr6:162489400-162489800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:162491400-162492000	Enhancers	Right Ventricle	heart
25	chr6:162491600-162492000	ZNF genes & repeats	Aorta	Aorta
26	chr6:162492000-162494200	Weak transcription	Aorta	Aorta
27	chr6:162494200-162494400	ZNF genes & repeats	Aorta	Aorta
28	chr6:162494600-162494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:162495600-162496000	Enhancers	Fetal Brain Male	brain
30	chr6:162495800-162496400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:162496000-162496400	Weak transcription	Fetal Brain Male	brain
32	chr6:162496000-162496800	Enhancers	Fetal Heart	heart
33	chr6:162496400-162496800	Enhancers	Fetal Brain Male	brain
34	chr6:162496800-162504400	Weak transcription	Fetal Heart	heart
35	chr6:162498000-162498200	Enhancers	Esophagus	oesophagus
36	chr6:162499200-162499400	Enhancers	HMEC	breast
37	chr6:162499200-162499600	Enhancers	NHEK	skin
38	chr6:162499400-162499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:162501200-162502000	Enhancers	HMEC	breast
40	chr6:162501400-162502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:162504400-162505000	Enhancers	Fetal Heart	heart
42	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:162511400-162512600	Enhancers	HMEC	breast
45	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
46	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:162511400-162512800	Enhancers	HSMM	muscle
49	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
50	chr6:162511600-162512200	Enhancers	A549	lung

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