Variant report

Variant	nsv538503
Chromosome Location	chr6:162420786-162643509
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
2	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
3	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
4	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
5	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
6	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
7	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
8	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
9	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
10	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
11	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
12	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
13	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
14	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
15	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
16	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
17	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
18	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
19	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
20	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
21	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:

No data

Extended variants
information (count: 7569 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:7569 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548803766	chr6:162425414-162425415	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs187180244	chr6:162425416-162425417	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs570163141	chr6:162425484-162425485	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531187719	chr6:162425508-162425509	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs369090210	chr6:162425518-162425519	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs191179766	chr6:162425593-162425594	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs571048555	chr6:162425611-162425612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373158158	chr6:162425627-162425628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150717104	chr6:162425654-162425655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138006584	chr6:162425686-162425687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535123305	chr6:162425771-162425772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555430256	chr6:162425776-162425777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552926084	chr6:162425844-162425845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6455793	chr6:162425855-162425856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149478287	chr6:162425920-162425921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147308619	chr6:162425952-162425953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535053869	chr6:162425984-162425985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543694977	chr6:162426006-162426007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557339130	chr6:162426022-162426023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576496581	chr6:162426027-162426028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541893473	chr6:162426053-162426054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182498070	chr6:162426055-162426056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527758109	chr6:162426120-162426121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541533138	chr6:162426135-162426136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140890166	chr6:162426149-162426150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188366163	chr6:162426176-162426177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550055611	chr6:162426223-162426224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7452475	chr6:162426273-162426274	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528840168	chr6:162426290-162426291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568618388	chr6:162426293-162426294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548730076	chr6:162426301-162426302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536051194	chr6:162426306-162426307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565691016	chr6:162426313-162426314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13193300	chr6:162426317-162426318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13193304	chr6:162426329-162426330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190322308	chr6:162426348-162426349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557843695	chr6:162426367-162426368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117767877	chr6:162426394-162426395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537282934	chr6:162426411-162426412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557279538	chr6:162426420-162426421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182545379	chr6:162426506-162426507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187539097	chr6:162426512-162426513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9458430	chr6:162426517-162426518	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144927002	chr6:162426530-162426531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149229669	chr6:162426543-162426544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77562214	chr6:162426568-162426569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74688752	chr6:162426582-162426583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75352330	chr6:162426583-162426584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113783606	chr6:162426584-162426585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148583268	chr6:162426610-162426611	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162425400-162425600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:162425600-162427400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:162425600-162427400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:162435000-162435200	Enhancers	HepG2	liver
5	chr6:162435200-162435600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:162435200-162435600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:162435200-162435600	Flanking Active TSS	HepG2	liver
8	chr6:162437800-162438000	ZNF genes & repeats	Pancreas	Pancrea
9	chr6:162438000-162444600	Weak transcription	Pancreas	Pancrea
10	chr6:162444200-162444600	Enhancers	Stomach Mucosa	stomach
11	chr6:162444600-162444800	ZNF genes & repeats	Pancreas	Pancrea
12	chr6:162444600-162448200	Weak transcription	Stomach Mucosa	stomach
13	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
14	chr6:162446400-162449800	Weak transcription	Ovary	ovary
15	chr6:162446600-162447000	Enhancers	Fetal Brain Male	brain
16	chr6:162447000-162447200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:162447000-162448600	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:162447000-162448600	Enhancers	Fetal Intestine Small	intestine
19	chr6:162447200-162447800	Enhancers	Fetal Kidney	kidney
20	chr6:162447200-162447800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:162447600-162448400	Active TSS	Liver	Liver
22	chr6:162447800-162448400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr6:162448200-162448600	Enhancers	Stomach Mucosa	stomach
24	chr6:162449000-162449200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr6:162449800-162450000	Enhancers	Ovary	ovary
26	chr6:162452600-162452800	Enhancers	Right Atrium	heart
27	chr6:162452800-162453800	Weak transcription	Right Atrium	heart
28	chr6:162453400-162454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:162453400-162454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:162453400-162454400	Enhancers	NHDF-Ad	bronchial
31	chr6:162453600-162454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr6:162453800-162454200	Enhancers	Right Atrium	heart
33	chr6:162455400-162456000	Enhancers	NHEK	skin
34	chr6:162466800-162467000	Enhancers	Pancreas	Pancrea
35	chr6:162467000-162471800	Weak transcription	Pancreas	Pancrea
36	chr6:162470200-162479400	Weak transcription	Ovary	ovary
37	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:162471800-162473000	Enhancers	Pancreas	Pancrea
39	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
40	chr6:162472200-162474800	Weak transcription	Brain Substantia Nigra	brain
41	chr6:162472400-162472600	Enhancers	Fetal Brain Male	brain
42	chr6:162473000-162475000	Weak transcription	Pancreas	Pancrea
43	chr6:162473600-162474400	Enhancers	Fetal Brain Female	brain
44	chr6:162474000-162475200	Enhancers	Liver	Liver
45	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:162474200-162474400	Enhancers	Left Ventricle	heart
47	chr6:162474200-162474600	Enhancers	Fetal Brain Male	brain
48	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
49	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
50	chr6:162475200-162478200	Weak transcription	Liver	Liver

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