Variant report

Variant	esv2755758
Chromosome Location	chr6:78944894-79052613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:
2	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:
3	chr6:79037479..79040377-chr6:79044089..79045864,2	K562	blood:
4	chr6:78966571..78967392-chr6:79036188..79036778,2	MCF-7	breast:

Extended variants
information (count: 443 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs946138	chr6:78944894-78944895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548819623	chr6:78944914-78944915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567332719	chr6:78944969-78944970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190124725	chr6:78945012-78945013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555523570	chr6:78945039-78945040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546702322	chr6:78945065-78945066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566339925	chr6:78945108-78945109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181721418	chr6:78945141-78945142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550189769	chr6:78945148-78945149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558390016	chr6:78945149-78945150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80350506	chr6:78945155-78945156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35685460	chr6:78945231-78945232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55656733	chr6:78945247-78945248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546487977	chr6:78945254-78945255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115948729	chr6:78945282-78945283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574603761	chr6:78945311-78945312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540370458	chr6:78945315-78945316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375003983	chr6:78945427-78945428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs946139	chr6:78945434-78945435	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577126791	chr6:78945447-78945448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546219236	chr6:78945466-78945467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573324370	chr6:78945510-78945511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566291176	chr6:78945512-78945513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542219714	chr6:78945583-78945584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542576602	chr6:78945683-78945684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562246308	chr6:78945707-78945708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527934967	chr6:78945762-78945763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143153625	chr6:78945767-78945768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566572158	chr6:78945850-78945851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147191499	chr6:78945853-78945854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551770287	chr6:78945895-78945896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12234129	chr6:78945906-78945907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185057127	chr6:78945916-78945917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148253813	chr6:78945943-78945944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2066019	chr6:78946001-78946002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554938167	chr6:78946055-78946056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533998572	chr6:78946088-78946089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553927239	chr6:78946215-78946216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113687069	chr6:78946247-78946248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577292900	chr6:78946249-78946250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546188246	chr6:78946323-78946324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113177597	chr6:78946393-78946394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549415429	chr6:78949112-78949113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566042654	chr6:78949113-78949114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs818235	chr6:78949116-78949117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540016860	chr6:78949155-78949156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551374845	chr6:78949165-78949166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571339310	chr6:78949185-78949186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537329675	chr6:78949204-78949205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368960352	chr6:78949269-78949270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	21272361	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78943400-78946400	Enhancers	HUVEC	blood vessel
2	chr6:78944200-78945600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:78944600-78945000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:78944600-78945800	Enhancers	Hela-S3	cervix
5	chr6:78944600-78946200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:78944800-78945600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:78944800-78945600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:78944800-78945600	Enhancers	HMEC	breast
9	chr6:78944800-78945600	Enhancers	NH-A	brain
10	chr6:78945000-78945600	Enhancers	NHEK	skin
11	chr6:78949000-78949400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:78949400-78949600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:78953000-78953400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:78953000-78953600	Enhancers	HUVEC	blood vessel
15	chr6:78962600-78963000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:78962600-78963000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:78962600-78963000	Enhancers	HMEC	breast
18	chr6:78962600-78963000	Enhancers	NHEK	skin
19	chr6:78962800-78963600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:78974800-78975200	Enhancers	Aorta	Aorta
21	chr6:78977000-78977400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:78977000-78977400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:78983200-78984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:78999800-79000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:79000000-79000400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:79010400-79011000	Enhancers	HMEC	breast
27	chr6:79011000-79012000	Weak transcription	HMEC	breast
28	chr6:79012200-79012400	Enhancers	HMEC	breast
29	chr6:79017800-79018000	ZNF genes & repeats	Aorta	Aorta
30	chr6:79018000-79020400	Weak transcription	Aorta	Aorta
31	chr6:79031400-79033200	Enhancers	Liver	Liver

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