Variant report

Variant	nsv463166
Chromosome Location	chr6:78083971-78127374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 381 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1342634	chr6:78083971-78083972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540229209	chr6:78083979-78083980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1342635	chr6:78084035-78084036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186569584	chr6:78084072-78084073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552412487	chr6:78084073-78084074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567234115	chr6:78084084-78084085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531824506	chr6:78084116-78084117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548844031	chr6:78084253-78084254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568768554	chr6:78084326-78084327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116248582	chr6:78084398-78084399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546601371	chr6:78084417-78084418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566358179	chr6:78084536-78084537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149290216	chr6:78084552-78084553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538459427	chr6:78084557-78084558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550706688	chr6:78084629-78084630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575354839	chr6:78084636-78084637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537634430	chr6:78084777-78084778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554388582	chr6:78084805-78084806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2320297	chr6:78084841-78084842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375163767	chr6:78084924-78084925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144740441	chr6:78084944-78084945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570071103	chr6:78084958-78084959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191704062	chr6:78084992-78084993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530976439	chr6:78085051-78085052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374954257	chr6:78085057-78085058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183824493	chr6:78085065-78085066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9341664	chr6:78085186-78085187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs201146229	chr6:78085237-78085238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371870795	chr6:78085242-78085243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531883296	chr6:78085275-78085276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575539589	chr6:78085281-78085282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189522866	chr6:78085289-78085290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145394105	chr6:78085331-78085332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147665394	chr6:78085346-78085347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548129106	chr6:78085371-78085372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566414203	chr6:78085380-78085381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111972691	chr6:78085410-78085411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140670979	chr6:78085426-78085427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34753158	chr6:78085472-78085473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4142468	chr6:78085506-78085507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376648680	chr6:78085593-78085594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568855281	chr6:78085693-78085694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537576185	chr6:78085703-78085704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182168615	chr6:78085705-78085706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76614295	chr6:78085723-78085724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142459016	chr6:78085770-78085771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535012810	chr6:78085784-78085785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553742015	chr6:78085827-78085828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553791707	chr6:78085914-78085915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577111009	chr6:78085915-78085916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78083400-78084000	Enhancers	Duodenum Mucosa	Duodenum
2	chr6:78083400-78084000	Enhancers	Left Ventricle	heart
3	chr6:78083400-78084200	Enhancers	Gastric	stomach
4	chr6:78083600-78084000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:78083800-78084000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:78084200-78086200	Weak transcription	Gastric	stomach
7	chr6:78086400-78086600	Enhancers	Gastric	stomach
8	chr6:78092800-78093200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:78107200-78107800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:78108600-78109000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:78108600-78109200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:78108600-78109200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:78108600-78109400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:78108600-78109600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:78108600-78109600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:78108800-78109600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:78109000-78109400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:78109000-78110200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:78109400-78113000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:78111000-78111200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:78111800-78112000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:78111800-78112000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:78112000-78113000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:78112000-78113000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:78112000-78113800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:78112000-78114000	Enhancers	NHDF-Ad	bronchial
27	chr6:78112800-78113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:78113000-78113400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:78113000-78113600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:78113000-78113600	Enhancers	HSMMtube	muscle
31	chr6:78113000-78113800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:78113000-78114000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:78113000-78114000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:78113200-78113600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:78113200-78113600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:78113200-78113600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:78113200-78113800	Enhancers	HSMM	muscle
38	chr6:78113400-78113800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:78114000-78115000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:78115000-78115400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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