Variant report

Variant	esv3451765
Chromosome Location	chr6:72195766-72196238
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	chr6:72194308..72195999-chr6:72198421..72200514,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540320348	chr6:72195783-72195784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539632413	chr6:72195794-72195795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564966173	chr6:72195800-72195801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs495002	chr6:72195815-72195816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs494938	chr6:72195837-72195838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs74499260	chr6:72195862-72195863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540782201	chr6:72195879-72195880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184571152	chr6:72195885-72195886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117874253	chr6:72195886-72195887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566853874	chr6:72195896-72195897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6938925	chr6:72195898-72195899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544361693	chr6:72195916-72195917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552627876	chr6:72195929-72195930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs493265	chr6:72195981-72195982	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs530032783	chr6:72196029-72196030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543448481	chr6:72196030-72196031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189453877	chr6:72196046-72196047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182158231	chr6:72196063-72196064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556750815	chr6:72196076-72196077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575221296	chr6:72196077-72196078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536147640	chr6:72196085-72196086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs492196	chr6:72196134-72196135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572776463	chr6:72196194-72196195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79477677	chr6:72196209-72196210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Gastrointestinal stromal cancer	20818650	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
Developmental delay	21147756	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
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72189200-72199200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:72189400-72195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:72189600-72199800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:72189800-72196000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:72190400-72199000	Weak transcription	Hela-S3	cervix
6	chr6:72191400-72200400	Weak transcription	Psoas Muscle	Psoas
7	chr6:72191800-72196000	Weak transcription	NHEK	skin
8	chr6:72192000-72196000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:72192000-72196000	Weak transcription	NH-A	brain
10	chr6:72192000-72196000	Weak transcription	Osteobl	bone
11	chr6:72192000-72200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:72192000-72209600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:72192400-72195800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:72192400-72196000	Weak transcription	NHLF	lung
15	chr6:72192400-72199400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:72192600-72195800	Weak transcription	HSMMtube	muscle
17	chr6:72192600-72196000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:72192600-72196000	Weak transcription	NHDF-Ad	bronchial
19	chr6:72193800-72197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:72193800-72197800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:72194800-72199000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:72195600-72196800	Enhancers	HSMM	muscle
23	chr6:72195800-72196200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:72195800-72196400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:72195800-72196800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:72195800-72196800	Enhancers	HSMMtube	muscle
27	chr6:72196000-72196400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:72196000-72196400	Enhancers	Aorta	Aorta
29	chr6:72196000-72196400	Enhancers	NHDF-Ad	bronchial
30	chr6:72196000-72196400	Enhancers	NHEK	skin
31	chr6:72196000-72196600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:72196000-72196600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:72196000-72196600	Enhancers	NH-A	brain
34	chr6:72196000-72196800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:72196000-72196800	Enhancers	NHLF	lung
36	chr6:72196000-72196800	Enhancers	Osteobl	bone
37	chr6:72196200-72199000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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