Variant report

Variant	esv3324409
Chromosome Location	chr6:81349858-81352406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 131 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568299428	chr6:81349898-81349899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534163012	chr6:81349917-81349918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs118059013	chr6:81349970-81349971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571214749	chr6:81350020-81350021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571125785	chr6:81350084-81350085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552882071	chr6:81350088-81350089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556136795	chr6:81350148-81350149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576175008	chr6:81350150-81350151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149012397	chr6:81350205-81350206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538890117	chr6:81350226-81350227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555544702	chr6:81350338-81350339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111291923	chr6:81350362-81350363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556702267	chr6:81350369-81350370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564186040	chr6:81350395-81350396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190656444	chr6:81350402-81350403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577885662	chr6:81350404-81350405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545849798	chr6:81350432-81350433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76394264	chr6:81350435-81350436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557049855	chr6:81350556-81350557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182676654	chr6:81350658-81350659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548265856	chr6:81350660-81350661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185871058	chr6:81350667-81350668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572779311	chr6:81350715-81350716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11346112	chr6:81350727-81350728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397886846	chr6:81350735-81350736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190707722	chr6:81350742-81350743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79756381	chr6:81350762-81350763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138304054	chr6:81350772-81350773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571019628	chr6:81350781-81350782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143884117	chr6:81350789-81350790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182950851	chr6:81350815-81350816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371645804	chr6:81350834-81350835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202119077	chr6:81350840-81350841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71902707	chr6:81350841-81350842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111356235	chr6:81350842-81350843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201219235	chr6:81350846-81350847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202006944	chr6:81350847-81350848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200291833	chr6:81350853-81350854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201289972	chr6:81350854-81350855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569662256	chr6:81350870-81350871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377102510	chr6:81350879-81350880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72408515	chr6:81350893-81350894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4571527	chr6:81350902-81350903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187662421	chr6:81350907-81350908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567817108	chr6:81350915-81350916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565791361	chr6:81350922-81350923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371734280	chr6:81350939-81350940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534485379	chr6:81350951-81350952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557954751	chr6:81350961-81350962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546687268	chr6:81350973-81350974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81346800-81350600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:81348000-81350600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:81348400-81350200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:81348800-81350600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:81348800-81359800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:81349000-81350600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:81349000-81352600	Weak transcription	Stomach Mucosa	stomach
8	chr6:81349200-81351400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:81349200-81351400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:81349200-81351400	Weak transcription	NHDF-Ad	bronchial
11	chr6:81349200-81351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:81349200-81351600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:81349200-81351600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:81349200-81351600	Weak transcription	HSMM	muscle
15	chr6:81349400-81350000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:81349400-81351400	Weak transcription	Osteobl	bone
17	chr6:81349600-81351400	Weak transcription	NHLF	lung
18	chr6:81349800-81353000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr6:81350000-81350200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr6:81351400-81351600	Enhancers	Osteobl	bone
21	chr6:81351400-81352200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:81351400-81352200	Enhancers	NHLF	lung
23	chr6:81351400-81353400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:81351400-81353400	Enhancers	NHDF-Ad	bronchial
25	chr6:81351600-81352000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:81351600-81352000	Flanking Active TSS	Osteobl	bone
27	chr6:81351600-81352200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:81351600-81352200	Enhancers	HSMM	muscle
29	chr6:81351600-81352800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:81352000-81352200	Enhancers	Osteobl	bone
31	chr6:81352000-81353000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:81352200-81353000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:81352200-81353200	Weak transcription	Osteobl	bone

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