Variant report

Variant	esv3351412
Chromosome Location	chr6:114227382-114227662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114179382..114181466-chr6:114226891..114229002,2	MCF-7	breast:
2	chr6:114226817..114229049-chr6:114230509..114233303,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 116 )

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	rs73768587	chr6:114227394-114227395	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570581622	chr6:114227395-114227396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537552416	chr6:114227396-114227397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534568555	chr6:114227407-114227408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548431718	chr6:114227432-114227433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10452636	chr6:114227435-114227436	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73768588	chr6:114227448-114227449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367665335	chr6:114227484-114227485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4552757	chr6:114227503-114227504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111325411	chr6:114227519-114227520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370465702	chr6:114227520-114227521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4345425	chr6:114227527-114227528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557409185	chr6:114227529-114227530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4400243	chr6:114227543-114227544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4569995	chr6:114227549-114227550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs66939405	chr6:114227556-114227557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5027726	chr6:114227557-114227558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs5027725	chr6:114227561-114227562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79963319	chr6:114227577-114227578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546018555	chr6:114227594-114227595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564216776	chr6:114227606-114227607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570646	chr6:114227607-114227608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570617	chr6:114227617-114227618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569597	chr6:114227619-114227620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528572520	chr6:114227620-114227621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540213347	chr6:114227652-114227653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	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
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114225200-114227600	Enhancers	Spleen	Spleen
2	chr6:114225400-114230400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:114225600-114230000	Weak transcription	Osteobl	bone
4	chr6:114225600-114230200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:114225800-114228400	Weak transcription	Pancreas	Pancrea
6	chr6:114225800-114230000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:114225800-114230400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:114225800-114230400	Weak transcription	HUVEC	blood vessel
9	chr6:114225800-114231000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:114226000-114230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:114226000-114230000	Weak transcription	Ovary	ovary
12	chr6:114226000-114230000	Weak transcription	NHDF-Ad	bronchial
13	chr6:114226200-114242000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:114226400-114227600	Enhancers	Lung	lung
15	chr6:114226600-114227600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:114226600-114246000	Weak transcription	Fetal Stomach	stomach
17	chr6:114226800-114240400	Weak transcription	Left Ventricle	heart
18	chr6:114227600-114228600	Weak transcription	Spleen	Spleen

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