Variant report

Variant	nsv481762
Chromosome Location	chr6:162445820-162610233
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
2	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
3	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
4	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
5	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
6	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
7	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
8	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
9	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
10	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
11	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
12	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
13	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
14	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
15	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:

No data

Extended variants
information (count: 5663 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5663 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538285720	chr6:162445836-162445837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149382349	chr6:162445848-162445849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9355976	chr6:162445853-162445854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528601875	chr6:162445936-162445937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2849570	chr6:162445941-162445942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs202245125	chr6:162445955-162445956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571875928	chr6:162445961-162445962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527280056	chr6:162446007-162446008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189845012	chr6:162446015-162446016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2849569	chr6:162446024-162446025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563053976	chr6:162446086-162446087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530243990	chr6:162446093-162446094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77886609	chr6:162446106-162446107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560741917	chr6:162446109-162446110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138835862	chr6:162446148-162446149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552946997	chr6:162446173-162446174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2851396	chr6:162446193-162446194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6921509	chr6:162446196-162446197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558469210	chr6:162446204-162446205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182125773	chr6:162446215-162446216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544084228	chr6:162446216-162446217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571284547	chr6:162446237-162446238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147404639	chr6:162446281-162446282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529960211	chr6:162446286-162446287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542622322	chr6:162446294-162446295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148489886	chr6:162446314-162446315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186560799	chr6:162446327-162446328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551900094	chr6:162446344-162446345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538679843	chr6:162446357-162446358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191719310	chr6:162446386-162446387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531165505	chr6:162446388-162446389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550412531	chr6:162446433-162446434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114954496	chr6:162446468-162446469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553444359	chr6:162446469-162446470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79332350	chr6:162446488-162446489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77852088	chr6:162446573-162446574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368897236	chr6:162446614-162446615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150303444	chr6:162446615-162446616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10696081	chr6:162446616-162446617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566508684	chr6:162446646-162446647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184563265	chr6:162446674-162446675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558263105	chr6:162446691-162446692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575073197	chr6:162446707-162446708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141780309	chr6:162446712-162446713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200980703	chr6:162446730-162446731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150513847	chr6:162446736-162446737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574350810	chr6:162446743-162446744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554777450	chr6:162446752-162446753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565194314	chr6:162446784-162446785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540524587	chr6:162446807-162446808	Enhancers 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
Bipolar disorder	19114987	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162444600-162448200	Weak transcription	Stomach Mucosa	stomach
2	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
3	chr6:162446400-162449800	Weak transcription	Ovary	ovary
4	chr6:162446600-162447000	Enhancers	Fetal Brain Male	brain
5	chr6:162447000-162447200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:162447000-162448600	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:162447000-162448600	Enhancers	Fetal Intestine Small	intestine
8	chr6:162447200-162447800	Enhancers	Fetal Kidney	kidney
9	chr6:162447200-162447800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:162447600-162448400	Active TSS	Liver	Liver
11	chr6:162447800-162448400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr6:162448200-162448600	Enhancers	Stomach Mucosa	stomach
13	chr6:162449000-162449200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr6:162449800-162450000	Enhancers	Ovary	ovary
15	chr6:162452600-162452800	Enhancers	Right Atrium	heart
16	chr6:162452800-162453800	Weak transcription	Right Atrium	heart
17	chr6:162453400-162454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:162453400-162454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:162453400-162454400	Enhancers	NHDF-Ad	bronchial
20	chr6:162453600-162454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:162453800-162454200	Enhancers	Right Atrium	heart
22	chr6:162455400-162456000	Enhancers	NHEK	skin
23	chr6:162466800-162467000	Enhancers	Pancreas	Pancrea
24	chr6:162467000-162471800	Weak transcription	Pancreas	Pancrea
25	chr6:162470200-162479400	Weak transcription	Ovary	ovary
26	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:162471800-162473000	Enhancers	Pancreas	Pancrea
28	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
29	chr6:162472200-162474800	Weak transcription	Brain Substantia Nigra	brain
30	chr6:162472400-162472600	Enhancers	Fetal Brain Male	brain
31	chr6:162473000-162475000	Weak transcription	Pancreas	Pancrea
32	chr6:162473600-162474400	Enhancers	Fetal Brain Female	brain
33	chr6:162474000-162475200	Enhancers	Liver	Liver
34	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:162474200-162474400	Enhancers	Left Ventricle	heart
36	chr6:162474200-162474600	Enhancers	Fetal Brain Male	brain
37	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
38	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
39	chr6:162475200-162478200	Weak transcription	Liver	Liver
40	chr6:162476000-162476400	Weak transcription	Pancreas	Pancrea
41	chr6:162476200-162477400	Enhancers	A549	lung
42	chr6:162476400-162477600	Enhancers	Right Atrium	heart
43	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
44	chr6:162476600-162476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:162476600-162476800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:162476800-162477000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:162476800-162477400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:162476800-162477400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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