Variant report

Variant	nsv517168
Chromosome Location	chr6:82319174-82325529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82316769..82319258-chr6:82322440..82324467,2	K562	blood:
2	chr6:82316769..82319258-chr6:82322440..82324467,2	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4706144	chr6:82319174-82319175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541871276	chr6:82319176-82319177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184480207	chr6:82319212-82319213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139833183	chr6:82319257-82319258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77350571	chr6:82319287-82319288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150015299	chr6:82319300-82319301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372317173	chr6:82319352-82319353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16893251	chr6:82319418-82319419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374253327	chr6:82319530-82319531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77373032	chr6:82319573-82319574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543673882	chr6:82319622-82319623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535541574	chr6:82319645-82319646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144261511	chr6:82319661-82319662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565648518	chr6:82319859-82319860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72895355	chr6:82319863-82319864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554993854	chr6:82319879-82319880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1341225	chr6:82319880-82319881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534148886	chr6:82319926-82319927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558578784	chr6:82319937-82319938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190220030	chr6:82319972-82319973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536805543	chr6:82320137-82320138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570679096	chr6:82320209-82320210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576172450	chr6:82320238-82320239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541902212	chr6:82320280-82320281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563490937	chr6:82320325-82320326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572375620	chr6:82320400-82320401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541374909	chr6:82320404-82320405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1917064	chr6:82320479-82320480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs193267538	chr6:82320483-82320484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544076856	chr6:82320492-82320493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563857650	chr6:82320493-82320494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529026619	chr6:82320515-82320516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549034925	chr6:82320530-82320531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565556835	chr6:82320561-82320562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528050499	chr6:82320590-82320591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551392342	chr6:82320607-82320608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571257074	chr6:82320695-82320696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536941072	chr6:82320728-82320729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553078158	chr6:82320736-82320737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116889436	chr6:82320858-82320859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541899416	chr6:82320870-82320871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562540213	chr6:82320872-82320873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535595913	chr6:82320889-82320890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185059147	chr6:82320939-82320940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555794389	chr6:82320984-82320985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572356433	chr6:82321108-82321109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189179388	chr6:82321150-82321151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558180332	chr6:82321224-82321225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578260078	chr6:82321237-82321238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181206484	chr6:82321244-82321245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82317600-82323000	Weak transcription	NHLF	lung
2	chr6:82318000-82323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:82318000-82323000	Weak transcription	NH-A	brain
4	chr6:82318000-82323000	Weak transcription	NHDF-Ad	bronchial
5	chr6:82318000-82323200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:82318000-82356600	Weak transcription	Aorta	Aorta
7	chr6:82318200-82323000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:82318800-82322800	Weak transcription	Osteobl	bone
9	chr6:82318800-82323000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:82318800-82323000	Weak transcription	HUVEC	blood vessel
11	chr6:82320400-82323800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:82321600-82322000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:82322000-82324000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:82322000-82325600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:82322600-82323600	Enhancers	Dnd41	blood
16	chr6:82322800-82324400	Enhancers	Osteobl	bone
17	chr6:82323000-82323200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:82323000-82323600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:82323000-82323800	Enhancers	HUVEC	blood vessel
20	chr6:82323000-82324000	Enhancers	NH-A	brain
21	chr6:82323000-82324400	Enhancers	NHDF-Ad	bronchial
22	chr6:82323000-82324400	Enhancers	NHLF	lung
23	chr6:82323000-82324800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:82323000-82325000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:82323000-82325000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:82323200-82323400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr6:82323200-82323600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:82323200-82324200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:82323200-82324200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:82323200-82324200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:82323200-82324400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:82323200-82324400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:82323200-82324400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:82323200-82324400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:82323200-82324400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:82323200-82324400	Enhancers	NHEK	skin
37	chr6:82323400-82323600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:82323400-82323800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr6:82323400-82324200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:82323400-82324200	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:82323400-82324400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:82323400-82324400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:82323400-82324400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:82323400-82324400	Enhancers	Stomach Mucosa	stomach
45	chr6:82323400-82324400	Enhancers	Hela-S3	cervix
46	chr6:82323400-82324600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:82323400-82325000	Enhancers	Fetal Intestine Large	intestine
48	chr6:82323600-82324000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:82323600-82324000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:82323600-82324200	Enhancers	HMEC	breast

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