Variant report

Variant	esv3337652
Chromosome Location	chr6:75191281-75236324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75230693..75233454-chr6:75235051..75237523,2	K562	blood:
2	chr6:75211091..75212961-chr6:75213231..75215124,2	K562	blood:
3	chr6:75230693..75233454-chr6:75235051..75237523,2	K562	blood:
4	chr6:75211091..75212961-chr6:75213231..75215124,2	K562	blood:

Extended variants
information (count: 611 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200577976	chr6:75191286-75191287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10708253	chr6:75191287-75191288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537679877	chr6:75191321-75191322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140188222	chr6:75191339-75191340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs58594448	chr6:75191364-75191365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574316961	chr6:75191371-75191372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540668976	chr6:75191417-75191418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143756069	chr6:75191431-75191432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113314615	chr6:75191453-75191454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557222861	chr6:75191458-75191459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544671973	chr6:75191494-75191495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542872667	chr6:75191526-75191527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563069139	chr6:75191540-75191541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181661062	chr6:75191546-75191547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10563969	chr6:75191557-75191558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398065956	chr6:75191559-75191560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201295837	chr6:75191560-75191561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549192559	chr6:75191600-75191601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62437427	chr6:75191607-75191608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561013242	chr6:75191623-75191624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528431614	chr6:75191641-75191642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546579548	chr6:75191645-75191646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550678423	chr6:75191657-75191658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146366256	chr6:75191663-75191664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374268459	chr6:75191685-75191686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368508452	chr6:75191695-75191696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567394659	chr6:75191708-75191709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115290520	chr6:75191787-75191788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555974665	chr6:75191789-75191790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78164884	chr6:75191803-75191804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535285458	chr6:75191835-75191836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186458949	chr6:75191869-75191870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191332490	chr6:75191873-75191874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577193619	chr6:75191880-75191881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139865495	chr6:75191924-75191925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563026782	chr6:75191962-75191963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112919393	chr6:75191985-75191986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542452199	chr6:75191996-75191997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112234299	chr6:75192066-75192067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202174463	chr6:75192067-75192068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73757829	chr6:75192072-75192073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546840250	chr6:75192081-75192082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182704002	chr6:75192122-75192123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187835686	chr6:75192142-75192143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551839222	chr6:75192143-75192144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570159783	chr6:75192182-75192183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537504486	chr6:75192220-75192221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549216759	chr6:75192234-75192235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567810123	chr6:75192288-75192289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145453565	chr6:75192305-75192306	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Chronic lymphocytic leukemia	21546498	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
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75189600-75192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:75190400-75192800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:75191000-75191400	Enhancers	Adipose Nuclei	Adipose
4	chr6:75191200-75191400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:75191600-75192000	Enhancers	Stomach Mucosa	stomach
6	chr6:75192000-75192200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:75202400-75203200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:75211200-75213800	Weak transcription	Pancreas	Pancrea
9	chr6:75213800-75214800	ZNF genes & repeats	Pancreas	Pancrea
10	chr6:75214000-75216200	ZNF genes & repeats	HSMMtube	muscle
11	chr6:75215200-75215400	Weak transcription	Pancreas	Pancrea
12	chr6:75216200-75220400	Weak transcription	HSMMtube	muscle
13	chr6:75220400-75220800	Enhancers	HSMMtube	muscle
14	chr6:75220600-75221000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:75220600-75221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:75228600-75229400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:75228600-75229600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:75228800-75229200	Enhancers	A549	lung
19	chr6:75228800-75229400	Enhancers	Muscle Satellite Cultured Cells	--

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