Variant report

Variant	nsv464124
Chromosome Location	chr6:163023850-163113502
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163111769..163114753-chr6:163116374..163118174,2	K562	blood:
2	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:
3	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
4	chr6:163100762..163102270-chr6:163108804..163111519,2	K562	blood:
5	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
6	chr6:163002877..163005708-chr6:163021910..163024946,3	K562	blood:
7	chr6:163100762..163102270-chr6:163108804..163111519,2	K562	blood:
8	chr6:163103043..163104996-chr6:163109382..163111025,2	K562	blood:
9	chr6:163103043..163104996-chr6:163109382..163111025,2	K562	blood:
10	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:

No data

Extended variants
information (count: 3171 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3171 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7756486	chr6:163023850-163023851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181601503	chr6:163023855-163023856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202049924	chr6:163023862-163023863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575681777	chr6:163023868-163023869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368796187	chr6:163023892-163023893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561587626	chr6:163023941-163023942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575028645	chr6:163023967-163023968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369542843	chr6:163023979-163023980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540947830	chr6:163023980-163023981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560504647	chr6:163024008-163024009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73595961	chr6:163024039-163024040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551825236	chr6:163024112-163024113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562243713	chr6:163024113-163024114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529931954	chr6:163024173-163024174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531166675	chr6:163024234-163024235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559188048	chr6:163024262-163024263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117289083	chr6:163024291-163024292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186323677	chr6:163024335-163024336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575293888	chr6:163024336-163024337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533826101	chr6:163024371-163024372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547706349	chr6:163024396-163024397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577836868	chr6:163024418-163024419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539666267	chr6:163024441-163024442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547766231	chr6:163024471-163024472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559046580	chr6:163024472-163024473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144308894	chr6:163024504-163024505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538387608	chr6:163024516-163024517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148743668	chr6:163024517-163024518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191252924	chr6:163024551-163024552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77930367	chr6:163024557-163024558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540268612	chr6:163024563-163024564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576974301	chr6:163024584-163024585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545994356	chr6:163024589-163024590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1002435	chr6:163024653-163024654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531304089	chr6:163024784-163024785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181600188	chr6:163024789-163024790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577038616	chr6:163024825-163024826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377453658	chr6:163024866-163024867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371162014	chr6:163024867-163024868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567378598	chr6:163024913-163024914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142619665	chr6:163024914-163024915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544063239	chr6:163024926-163024927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561514733	chr6:163024944-163024945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527300195	chr6:163024958-163024959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547346866	chr6:163025002-163025003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570763412	chr6:163025015-163025016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537635678	chr6:163025029-163025030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111489687	chr6:163025031-163025032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549993678	chr6:163025037-163025038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569893068	chr6:163025078-163025079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163018000-163036400	Weak transcription	Pancreas	Pancrea
2	chr6:163020600-163024400	Weak transcription	Fetal Brain Male	brain
3	chr6:163020800-163024400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:163020800-163024800	Weak transcription	Left Ventricle	heart
5	chr6:163023600-163024400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:163023800-163024000	Enhancers	Brain Anterior Caudate	brain
7	chr6:163023800-163024600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:163024000-163027400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:163024200-163025600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:163024200-163025800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:163024200-163026000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:163024400-163024600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:163024400-163025000	Enhancers	Fetal Brain Male	brain
14	chr6:163024400-163025200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:163024400-163025200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:163024400-163025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:163024400-163025200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:163024400-163025400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:163024400-163025600	Enhancers	Fetal Brain Female	brain
20	chr6:163024400-163027400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:163024600-163025000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:163024600-163025200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:163024600-163025400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:163024600-163025400	Enhancers	Fetal Heart	heart
25	chr6:163024800-163025200	Enhancers	Left Ventricle	heart
26	chr6:163025000-163025400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:163025000-163025400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:163025200-163025400	Enhancers	Psoas Muscle	Psoas
29	chr6:163025200-163025600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:163025200-163029800	Weak transcription	Left Ventricle	heart
31	chr6:163025400-163043400	Weak transcription	Psoas Muscle	Psoas
32	chr6:163026400-163031200	Weak transcription	Aorta	Aorta
33	chr6:163027200-163036400	Weak transcription	Ovary	ovary
34	chr6:163027400-163036000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:163029800-163030200	Enhancers	Right Ventricle	heart
36	chr6:163029800-163030400	Enhancers	Left Ventricle	heart
37	chr6:163031200-163031400	ZNF genes & repeats	Aorta	Aorta
38	chr6:163031400-163032000	Weak transcription	Aorta	Aorta
39	chr6:163035200-163036600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:163035800-163037000	Enhancers	Adipose Nuclei	Adipose
41	chr6:163036000-163036800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:163036000-163037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:163036000-163037000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:163036000-163037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:163036200-163037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:163036400-163036600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:163036400-163036600	Enhancers	Pancreas	Pancrea
48	chr6:163036400-163036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:163036400-163036800	Enhancers	Ovary	ovary
50	chr6:163036400-163036800	Enhancers	Skeletal Muscle Female	skeletal muscle

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