Variant report

Variant	esv1823254
Chromosome Location	chr6:65705075-65714719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 439 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7760665	chr6:65705075-65705076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188838058	chr6:65705091-65705092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559934349	chr6:65705101-65705102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528677069	chr6:65705115-65705116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74328169	chr6:65705145-65705146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142775921	chr6:65705156-65705157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531085823	chr6:65705215-65705216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116257286	chr6:65705249-65705250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147349311	chr6:65705257-65705258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532010494	chr6:65705281-65705282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551843822	chr6:65705289-65705290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559904539	chr6:65705309-65705310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543479561	chr6:65705317-65705318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555176168	chr6:65705324-65705325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573640062	chr6:65705327-65705328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565597037	chr6:65705334-65705335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192555926	chr6:65705350-65705351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554437041	chr6:65705364-65705365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72875979	chr6:65705376-65705377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs536929280	chr6:65705406-65705407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77113735	chr6:65705447-65705448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182577765	chr6:65705450-65705451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186962057	chr6:65705456-65705457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369413020	chr6:65705517-65705518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9363309	chr6:65705539-65705540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573211157	chr6:65705545-65705546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542331149	chr6:65705565-65705566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5876932	chr6:65705608-65705609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565543746	chr6:65705613-65705614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562110042	chr6:65705615-65705616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74704874	chr6:65705616-65705617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551404607	chr6:65705617-65705618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544483917	chr6:65705680-65705681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191741399	chr6:65705710-65705711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113045892	chr6:65705783-65705784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77304806	chr6:65705802-65705803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34668001	chr6:65705820-65705821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532939397	chr6:65705832-65705833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184288611	chr6:65705862-65705863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548298545	chr6:65705868-65705869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543384581	chr6:65705869-65705870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188996834	chr6:65705870-65705871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563475875	chr6:65705920-65705921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376158159	chr6:65705945-65705946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192950283	chr6:65705998-65705999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370547054	chr6:65706012-65706013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185562265	chr6:65706054-65706055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553064707	chr6:65706057-65706058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190435995	chr6:65706203-65706204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113411394	chr6:65706205-65706206	Enhancers	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65705000-65705200	Enhancers	Pancreas	Pancrea
2	chr6:65705200-65706200	Weak transcription	Pancreas	Pancrea
3	chr6:65706200-65707000	Enhancers	Pancreas	Pancrea
4	chr6:65706400-65707000	Enhancers	Fetal Heart	heart
5	chr6:65707000-65716000	Weak transcription	Pancreas	Pancrea
6	chr6:65707400-65707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:65707600-65709400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:65708400-65712000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:65709200-65709800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr6:65709400-65709600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:65709400-65709800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:65709600-65709800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr6:65712000-65715000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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