Variant report

Variant	esv3432395
Chromosome Location	chr6:74505977-74506200
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	chr6:74490266..74491964-chr6:74504543..74507393,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111297160	chr6:74505980-74505981	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188471458	chr6:74506021-74506022	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73460398	chr6:74506072-74506073	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs58789425	chr6:74506125-74506126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533306481	chr6:74506128-74506129	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551365717	chr6:74506168-74506169	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569867516	chr6:74506197-74506198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536810253	chr6:74506200-74506201	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74438400-74527200	Weak transcription	Esophagus	oesophagus
2	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
3	chr6:74475200-74513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:74476000-74510800	Weak transcription	Fetal Heart	heart
5	chr6:74477400-74543400	Weak transcription	Lung	lung
6	chr6:74484600-74507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:74484600-74508200	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:74484600-74542000	Weak transcription	Right Ventricle	heart
9	chr6:74484800-74508200	Weak transcription	Hela-S3	cervix
10	chr6:74484800-74512600	Weak transcription	HSMM	muscle
11	chr6:74487000-74509600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:74489800-74510000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:74490200-74508200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:74490400-74527800	Weak transcription	Thymus	Thymus
15	chr6:74490600-74507400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:74490800-74507200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:74491600-74508000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:74492400-74510800	Weak transcription	A549	lung
19	chr6:74494400-74510800	Weak transcription	Fetal Lung	lung
20	chr6:74494400-74530800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:74495400-74533200	Weak transcription	Fetal Stomach	stomach
22	chr6:74496800-74528800	Weak transcription	Dnd41	blood
23	chr6:74499000-74507000	Weak transcription	NHLF	lung
24	chr6:74499000-74527000	Weak transcription	Fetal Thymus	thymus
25	chr6:74499000-74532600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr6:74499200-74520200	Weak transcription	NHEK	skin
27	chr6:74499600-74506600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:74500600-74506000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:74500600-74525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr6:74500600-74527600	Weak transcription	Primary T cells from cord blood	blood
31	chr6:74501200-74508000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr6:74501200-74514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:74501200-74521600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:74503200-74506000	Weak transcription	HUVEC	blood vessel
35	chr6:74503200-74506400	Weak transcription	Osteobl	bone
36	chr6:74503200-74520600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:74503400-74506400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:74503400-74520400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:74503400-74521600	Weak transcription	Left Ventricle	heart
40	chr6:74503400-74530600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:74503600-74520800	Weak transcription	Adipose Nuclei	Adipose
42	chr6:74503800-74506000	Weak transcription	HMEC	breast
43	chr6:74503800-74508000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:74503800-74526600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:74504400-74506600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr6:74505200-74508200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:74505400-74508400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:74505800-74506000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:74505800-74506200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:74505800-74506800	Genic enhancers	NHDF-Ad	bronchial

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