Variant report

Variant	esv3411767
Chromosome Location	chr6:109738124-109738562
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12528566	chr6:109738148-109738149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs564400725	chr6:109738163-109738164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190680109	chr6:109738209-109738210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549992390	chr6:109738212-109738213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543626738	chr6:109738218-109738219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563412923	chr6:109738239-109738240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528018436	chr6:109738262-109738263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528967021	chr6:109738316-109738317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183334206	chr6:109738329-109738330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189190995	chr6:109738330-109738331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559380973	chr6:109738351-109738352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547054330	chr6:109738389-109738390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375709967	chr6:109738390-109738391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528050987	chr6:109738453-109738454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116759802	chr6:109738483-109738484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79759631	chr6:109738512-109738513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530746093	chr6:109738558-109738559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109705000-109745200	Weak transcription	Fetal Kidney	kidney
2	chr6:109707000-109755400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:109721200-109760600	Weak transcription	Fetal Brain Female	brain
4	chr6:109724400-109750400	Weak transcription	Ovary	ovary
5	chr6:109725800-109760800	Weak transcription	Brain Anterior Caudate	brain
6	chr6:109731400-109745200	Weak transcription	Pancreas	Pancrea
7	chr6:109735200-109750200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:109735600-109750000	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:109735800-109742000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:109736400-109740400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:109736600-109760800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:109737000-109745400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:109737000-109745400	Weak transcription	Left Ventricle	heart
14	chr6:109737400-109750200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:109738400-109739200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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