Variant report

Variant	nsv1030712
Chromosome Location	chr6:162483614-162793290
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	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
2	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
3	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
4	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
5	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
6	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
7	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
8	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
9	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
10	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
11	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
12	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
13	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
14	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
15	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
16	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
17	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
18	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
19	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
20	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
21	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
22	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
23	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
24	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
25	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
26	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
27	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
28	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
29	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
30	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:

No data

Extended variants
information (count: 12201 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:12201 , 50 per page) page: 1 2 3 4 5 6 7 ... 245

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9295182	chr6:162483614-162483615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9458444	chr6:162483652-162483653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188093292	chr6:162483677-162483678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145933731	chr6:162483717-162483718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374111322	chr6:162483740-162483741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530939180	chr6:162483764-162483765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181422522	chr6:162483792-162483793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376535504	chr6:162483799-162483800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9456737	chr6:162483885-162483886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530254921	chr6:162483904-162483905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546843580	chr6:162483905-162483906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9456738	chr6:162483954-162483955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs368273617	chr6:162483957-162483958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538620878	chr6:162484001-162484002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186307797	chr6:162484014-162484015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568917740	chr6:162484016-162484017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537508075	chr6:162484032-162484033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537232326	chr6:162484041-162484042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554727170	chr6:162484101-162484102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575689300	chr6:162484141-162484142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192010005	chr6:162484168-162484169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139885045	chr6:162484201-162484202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554095364	chr6:162484215-162484216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577109816	chr6:162484220-162484221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545367161	chr6:162484230-162484231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181658035	chr6:162484256-162484257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1954914	chr6:162484297-162484298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544354743	chr6:162484303-162484304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561050512	chr6:162484326-162484327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543127804	chr6:162484345-162484346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59401123	chr6:162484349-162484350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559454207	chr6:162484352-162484353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546833132	chr6:162484372-162484373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560410842	chr6:162484379-162484380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77775981	chr6:162484389-162484390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200718187	chr6:162484432-162484433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1954913	chr6:162484449-162484450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35775505	chr6:162484487-162484488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540989003	chr6:162484492-162484493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568731697	chr6:162484495-162484496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192020159	chr6:162484499-162484500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73030499	chr6:162484507-162484508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs117054617	chr6:162484518-162484519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568198862	chr6:162484565-162484566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2096981	chr6:162484597-162484598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533971034	chr6:162484611-162484612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530109077	chr6:162484615-162484616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139258175	chr6:162484645-162484646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71004077	chr6:162484646-162484647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2105722	chr6:162484647-162484648	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:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162480000-162494600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:162482600-162484000	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:162483200-162483800	Enhancers	Psoas Muscle	Psoas
4	chr6:162483400-162483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:162483400-162484800	Weak transcription	A549	lung
6	chr6:162483800-162485000	Weak transcription	Psoas Muscle	Psoas
7	chr6:162484000-162487800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:162484800-162485200	Enhancers	A549	lung
9	chr6:162485000-162485200	Enhancers	Psoas Muscle	Psoas
10	chr6:162488000-162488200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:162488200-162501200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:162489400-162489800	Enhancers	Psoas Muscle	Psoas
13	chr6:162489400-162489800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:162491400-162492000	Enhancers	Right Ventricle	heart
15	chr6:162491600-162492000	ZNF genes & repeats	Aorta	Aorta
16	chr6:162492000-162494200	Weak transcription	Aorta	Aorta
17	chr6:162494200-162494400	ZNF genes & repeats	Aorta	Aorta
18	chr6:162494600-162494800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:162495600-162496000	Enhancers	Fetal Brain Male	brain
20	chr6:162495800-162496400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:162496000-162496400	Weak transcription	Fetal Brain Male	brain
22	chr6:162496000-162496800	Enhancers	Fetal Heart	heart
23	chr6:162496400-162496800	Enhancers	Fetal Brain Male	brain
24	chr6:162496800-162504400	Weak transcription	Fetal Heart	heart
25	chr6:162498000-162498200	Enhancers	Esophagus	oesophagus
26	chr6:162499200-162499400	Enhancers	HMEC	breast
27	chr6:162499200-162499600	Enhancers	NHEK	skin
28	chr6:162499400-162499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:162501200-162502000	Enhancers	HMEC	breast
30	chr6:162501400-162502000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:162504400-162505000	Enhancers	Fetal Heart	heart
32	chr6:162507400-162508200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:162511400-162512400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:162511400-162512600	Enhancers	HMEC	breast
35	chr6:162511400-162512600	Enhancers	HSMMtube	muscle
36	chr6:162511400-162512800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:162511400-162512800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:162511400-162512800	Enhancers	HSMM	muscle
39	chr6:162511400-162512800	Enhancers	NHDF-Ad	bronchial
40	chr6:162511600-162512200	Enhancers	A549	lung
41	chr6:162511600-162512200	Enhancers	NHEK	skin
42	chr6:162511600-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:162511600-162512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:162511600-162512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:162511600-162512800	Enhancers	NH-A	brain
46	chr6:162512000-162512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:162512000-162512800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:162513600-162514800	Enhancers	Fetal Heart	heart
49	chr6:162513600-162524800	Weak transcription	Ovary	ovary
50	chr6:162514800-162515400	Enhancers	Pancreas	Pancrea

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