Variant report

Variant	esv2754326
Chromosome Location	chr6:74884669-74918170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74892709..74895952-chr6:74900506..74904423,4	K562	blood:
2	chr6:74892709..74895952-chr6:74900506..74904423,4	K562	blood:
3	chr6:74912181..74915078-chr6:74916489..74918406,2	K562	blood:
4	chr6:74870023..74872617-chr6:74890173..74892829,2	MCF-7	breast:
5	chr6:74912181..74915078-chr6:74916489..74918406,2	K562	blood:

Extended variants
information (count: 228 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7765533	chr6:74884669-74884670	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551972327	chr6:74884672-74884673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139584706	chr6:74884719-74884720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537686454	chr6:74884752-74884753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555774194	chr6:74884757-74884758	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs567980977	chr6:74884825-74884826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534298931	chr6:74884939-74884940	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184119156	chr6:74884944-74884945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs527466558	chr6:74884960-74884961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577285133	chr6:74884961-74884962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544712494	chr6:74885002-74885003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114827561	chr6:74885003-74885004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560704771	chr6:74885030-74885031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575094221	chr6:74885034-74885035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75423117	chr6:74885039-74885040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79007786	chr6:74885073-74885074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144316656	chr6:74885106-74885107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9360747	chr6:74885110-74885111	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114699943	chr6:74885126-74885127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538697329	chr6:74885159-74885160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116601692	chr6:74885160-74885161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74354165	chr6:74885203-74885204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114565232	chr6:74885237-74885238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201714009	chr6:74885286-74885287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531109817	chr6:74885293-74885294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550520188	chr6:74885309-74885310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186935091	chr6:74885344-74885345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35309196	chr6:74885371-74885372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76440455	chr6:74885418-74885419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569012613	chr6:74885422-74885423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192814233	chr6:74885424-74885425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74943520	chr6:74885477-74885478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34261519	chr6:74885488-74885489	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184312860	chr6:74885499-74885500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111359106	chr6:74885552-74885553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16884470	chr6:74885645-74885646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539424015	chr6:74885652-74885653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139683725	chr6:74885675-74885676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76671590	chr6:74885676-74885677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573022637	chr6:74885697-74885698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554756383	chr6:74885741-74885742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559740446	chr6:74885763-74885764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76231762	chr6:74885766-74885767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545451904	chr6:74885771-74885772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553284511	chr6:74885776-74885777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189297904	chr6:74885879-74885880	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566985629	chr6:74885924-74885925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs549275840	chr6:74885967-74885968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368069729	chr6:74885988-74885989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs74354860	chr6:74886036-74886037	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74884400-74885000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:74885000-74885800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:74885800-74886000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:74886000-74886600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:74886600-74887000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:74887200-74887400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:74887200-74887800	Enhancers	Stomach Smooth Muscle	stomach
8	chr6:74887400-74887800	Enhancers	Fetal Heart	heart
9	chr6:74892400-74893000	Enhancers	Stomach Smooth Muscle	stomach
10	chr6:74892600-74893000	Enhancers	Pancreas	Pancrea
11	chr6:74892600-74893000	Enhancers	HepG2	liver
12	chr6:74906600-74907400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:74908800-74909600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:74908800-74909600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:74908800-74910000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:74909000-74909400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:74909000-74909400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:74909000-74909400	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:74909000-74909400	Enhancers	Fetal Muscle Leg	muscle
20	chr6:74909000-74909800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:74909000-74909800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:74910200-74910400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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