Variant report

Variant	esv2754259
Chromosome Location	chr6:69825681-69858930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1267 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1267 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1842743	chr6:69825681-69825682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147483434	chr6:69825780-69825781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535423816	chr6:69825850-69825851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140042547	chr6:69825878-69825879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116029017	chr6:69825904-69825905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184892004	chr6:69825906-69825907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572663521	chr6:69825937-69825938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190197666	chr6:69825942-69825943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552329264	chr6:69825974-69825975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565430632	chr6:69826082-69826083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145571670	chr6:69826141-69826142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528161942	chr6:69826151-69826152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547826772	chr6:69826195-69826196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567717632	chr6:69826219-69826220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537007936	chr6:69826244-69826245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192726269	chr6:69826245-69826246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544283333	chr6:69826247-69826248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34940707	chr6:69826281-69826282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570705858	chr6:69826353-69826354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184165141	chr6:69826363-69826364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553197639	chr6:69826369-69826370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572619506	chr6:69826384-69826385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550887908	chr6:69826408-69826409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369185557	chr6:69826413-69826414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574756842	chr6:69826416-69826417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543770569	chr6:69826418-69826419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189926735	chr6:69826424-69826425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530147866	chr6:69826462-69826463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548247233	chr6:69826463-69826464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3799039	chr6:69826507-69826508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528253735	chr6:69826550-69826551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559516680	chr6:69826557-69826558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528612289	chr6:69826598-69826599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549787328	chr6:69826617-69826618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547887739	chr6:69826629-69826630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371535579	chr6:69826630-69826631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181146059	chr6:69826633-69826634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530454686	chr6:69826678-69826679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550536244	chr6:69826793-69826794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186028283	chr6:69826810-69826811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs314195	chr6:69826827-69826828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546870717	chr6:69826881-69826882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12526613	chr6:69826891-69826892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188927365	chr6:69826927-69826928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181374824	chr6:69826932-69826933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574854455	chr6:69826936-69826937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537083092	chr6:69826950-69826951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557313129	chr6:69827039-69827040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144374682	chr6:69827045-69827046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187438048	chr6:69827084-69827085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	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
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69821400-69826400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:69821400-69832200	Weak transcription	Brain Hippocampus Middle	brain
3	chr6:69822000-69831400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:69826400-69826800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:69829800-69830200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:69831400-69831800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr6:69831400-69832200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:69831600-69832200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr6:69831600-69832200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:69831800-69838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:69832200-69834800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:69832200-69837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:69834800-69835200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:69834800-69835800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:69835000-69835400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:69835400-69838200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:69837800-69838600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:69837800-69839200	Enhancers	Fetal Brain Male	brain
19	chr6:69838000-69838600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:69838000-69839400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:69838200-69839000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:69838600-69839800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:69839800-69840200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr6:69840200-69841000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:69842400-69842600	Active TSS	Aorta	Aorta
26	chr6:69842600-69847800	Weak transcription	Aorta	Aorta
27	chr6:69845400-69846000	Active TSS	Right Atrium	heart
28	chr6:69846000-69848800	Weak transcription	Right Atrium	heart
29	chr6:69847400-69849800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:69847600-69847800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:69847800-69848000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:69847800-69850400	Enhancers	Fetal Heart	heart
33	chr6:69848000-69849000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:69848600-69849200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:69848800-69849200	Enhancers	HMEC	breast
36	chr6:69848800-69849400	Active TSS	Right Atrium	heart
37	chr6:69848800-69849800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr6:69849000-69849200	Enhancers	Aorta	Aorta
39	chr6:69849000-69849200	Enhancers	Left Ventricle	heart
40	chr6:69849000-69849400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:69849000-69849400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:69849000-69849600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:69849000-69849800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:69850000-69852200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:69852200-69852600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr6:69853400-69855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:69853800-69855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:69854800-69856200	ZNF genes & repeats	Fetal Lung	lung
49	chr6:69854800-69856600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
50	chr6:69855000-69855200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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