Variant report

Variant	esv3380489
Chromosome Location	chr6:80628815-80629720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138816180	chr6:80628822-80628823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113612308	chr6:80628823-80628824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373296715	chr6:80628826-80628827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200755315	chr6:80628827-80628828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2308089	chr6:80628828-80628829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569404221	chr6:80628832-80628833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531826685	chr6:80628844-80628845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145843578	chr6:80628848-80628849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375763732	chr6:80628849-80628850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568618066	chr6:80628866-80628867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534174568	chr6:80628867-80628868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9448857	chr6:80628982-80628983	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs566752852	chr6:80629007-80629008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539166983	chr6:80629058-80629059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114247663	chr6:80629079-80629080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200457540	chr6:80629087-80629088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115885157	chr6:80629089-80629090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200665739	chr6:80629116-80629117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141364884	chr6:80629148-80629149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199860277	chr6:80629155-80629156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373929988	chr6:80629157-80629158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs387906916	chr6:80629160-80629161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200118520	chr6:80629188-80629189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376577129	chr6:80629202-80629203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554644219	chr6:80629228-80629229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140405366	chr6:80629240-80629241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371104774	chr6:80629296-80629297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368830798	chr6:80629315-80629316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs700482	chr6:80629376-80629377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138740807	chr6:80629498-80629499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559743791	chr6:80629510-80629511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141513161	chr6:80629518-80629519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548171658	chr6:80629527-80629528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546440902	chr6:80629532-80629533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184531150	chr6:80629566-80629567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190594668	chr6:80629628-80629629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114591106	chr6:80629641-80629642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
2	chr6:80619200-80631800	Weak transcription	Esophagus	oesophagus
3	chr6:80621000-80630000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:80621200-80630400	Weak transcription	Ovary	ovary
5	chr6:80621800-80630000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:80621800-80632000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:80621800-80635000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr6:80622000-80643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:80622000-80644200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:80622600-80630000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:80622600-80632400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:80622600-80636800	Strong transcription	Dnd41	blood
13	chr6:80622600-80639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:80622800-80630000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:80623200-80632400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:80623400-80630400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:80623400-80639000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:80624000-80630400	Weak transcription	Primary T cells from cord blood	blood
19	chr6:80624000-80643000	Weak transcription	NHDF-Ad	bronchial
20	chr6:80624400-80631600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:80624400-80637800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:80624800-80636000	Weak transcription	Fetal Stomach	stomach
23	chr6:80625000-80630000	Weak transcription	Brain Germinal Matrix	brain
24	chr6:80625000-80633000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:80625000-80633400	Weak transcription	HSMM	muscle
26	chr6:80625600-80636600	Strong transcription	Fetal Thymus	thymus
27	chr6:80626200-80633800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:80626600-80633000	Weak transcription	Fetal Brain Female	brain
29	chr6:80626800-80630200	Weak transcription	Fetal Brain Male	brain
30	chr6:80628400-80629200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr6:80628600-80629800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:80628600-80629800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:80628600-80630000	Weak transcription	Thymus	Thymus
34	chr6:80628600-80631000	Weak transcription	HMEC	breast
35	chr6:80628600-80638600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:80628800-80631400	Weak transcription	Fetal Intestine Large	intestine
37	chr6:80629200-80639800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:80629400-80631800	Weak transcription	Brain Anterior Caudate	brain

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