Variant report

Variant	esv1845439
Chromosome Location	chr6:110464760-110469412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540119311	chr6:110464782-110464783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566609902	chr6:110464783-110464784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181834088	chr6:110464827-110464828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552369214	chr6:110464831-110464832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78934428	chr6:110464852-110464853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185242200	chr6:110464868-110464869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370675473	chr6:110464871-110464872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191029185	chr6:110464957-110464958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574526117	chr6:110464965-110464966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533755881	chr6:110465032-110465033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532203749	chr6:110465043-110465044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377686098	chr6:110465052-110465053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553938438	chr6:110465076-110465077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182345721	chr6:110465084-110465085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545549041	chr6:110465089-110465090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565482105	chr6:110465093-110465094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528623135	chr6:110465105-110465106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138153491	chr6:110465108-110465109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551835886	chr6:110465114-110465115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561235781	chr6:110465115-110465116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530068904	chr6:110465116-110465117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374092560	chr6:110465117-110465118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560087071	chr6:110465125-110465126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532485813	chr6:110465127-110465128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545924609	chr6:110465128-110465129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569080775	chr6:110465145-110465146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537636221	chr6:110465148-110465149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34221613	chr6:110465226-110465227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548499348	chr6:110465237-110465238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370107352	chr6:110465243-110465244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571391459	chr6:110465244-110465245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568341867	chr6:110465246-110465247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534053463	chr6:110465256-110465257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553821596	chr6:110465293-110465294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188290843	chr6:110465324-110465325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539520416	chr6:110465365-110465366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191034504	chr6:110465376-110465377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12662013	chr6:110465383-110465384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs544461858	chr6:110465387-110465388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554870594	chr6:110465512-110465513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574814539	chr6:110465514-110465515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557364548	chr6:110465517-110465518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540489494	chr6:110465525-110465526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560123544	chr6:110465536-110465537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532398773	chr6:110465550-110465551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546320134	chr6:110465558-110465559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531388372	chr6:110465559-110465560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562826682	chr6:110465610-110465611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548231690	chr6:110465651-110465652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568026593	chr6:110465664-110465665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110444000-110483800	Weak transcription	Fetal Kidney	kidney
2	chr6:110445200-110482400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:110449200-110498600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:110460400-110466400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:110460400-110472000	Weak transcription	Fetal Brain Male	brain
6	chr6:110460400-110485400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:110460600-110472000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:110460600-110474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:110460800-110465000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:110461600-110468800	Weak transcription	Primary B cells from cord blood	blood
11	chr6:110462000-110476400	Weak transcription	Fetal Brain Female	brain
12	chr6:110462200-110468600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:110462200-110468800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:110462200-110469000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:110462200-110476400	Weak transcription	Hela-S3	cervix
16	chr6:110462200-110479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:110462200-110480200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:110462200-110490000	Weak transcription	Ovary	ovary
19	chr6:110462600-110498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:110468000-110468800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:110468200-110470200	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:110468600-110469600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:110468600-110469800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:110468800-110470000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr6:110468800-110470000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:110468800-110470000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:110468800-110470800	Enhancers	Primary B cells from cord blood	blood
28	chr6:110468800-110479600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:110469000-110470200	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:110469200-110479800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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