Variant report

Variant	esv3474100
Chromosome Location	chr6:74932642-74933144
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529232802	chr6:74932646-74932647	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs76651353	chr6:74932648-74932649	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112466851	chr6:74932673-74932674	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371101302	chr6:74932720-74932721	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376761372	chr6:74932723-74932724	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs114650935	chr6:74932728-74932729	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552725816	chr6:74932730-74932731	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192981884	chr6:74932768-74932769	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs116499038	chr6:74932818-74932819	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556758331	chr6:74932827-74932828	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185316438	chr6:74932841-74932842	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs148537916	chr6:74932891-74932892	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144800536	chr6:74932919-74932920	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553339689	chr6:74933001-74933002	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571727210	chr6:74933002-74933003	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568142534	chr6:74933032-74933033	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs9359072	chr6:74933036-74933037	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373860751	chr6:74933054-74933055	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs201617481	chr6:74933072-74933073	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs199921457	chr6:74933073-74933074	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188187513	chr6:74933082-74933083	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557574218	chr6:74933095-74933096	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2788966	chr6:74933097-74933098	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543247656	chr6:74933100-74933101	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561946932	chr6:74933116-74933117	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs552883100	chr6:74933135-74933136	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74932200-74933200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:74932200-74933400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:74932200-74933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:74932400-74932800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:74932400-74933000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:74932400-74933000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:74932400-74933000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:74932400-74933000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:74932400-74933000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:74932400-74933200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:74932600-74933000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:74932600-74933000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:74932600-74933200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:74932800-74933000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:74932800-74933200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:74932800-74933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:74933000-74933200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:74933000-74933200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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