Variant report

Variant	esv2753765
Chromosome Location	chr6:78979398-79055191
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 333 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543235938	chr6:78983204-78983205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79784044	chr6:78983268-78983269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1993178	chr6:78983307-78983308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556163168	chr6:78983349-78983350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547416667	chr6:78983363-78983364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140641605	chr6:78983396-78983397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533214269	chr6:78983413-78983414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183715318	chr6:78983528-78983529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569804054	chr6:78983538-78983539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144388933	chr6:78983592-78983593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186549899	chr6:78983603-78983604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576946932	chr6:78983665-78983666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146619609	chr6:78983689-78983690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565825852	chr6:78983692-78983693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141404548	chr6:78983814-78983815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192507321	chr6:78983833-78983834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150279917	chr6:78983869-78983870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368427054	chr6:78983899-78983900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs818312	chr6:78984001-78984002	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557193367	chr6:78984026-78984027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115938015	chr6:78984028-78984029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562817255	chr6:78984034-78984035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530018946	chr6:78984039-78984040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116235801	chr6:78984059-78984060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548143661	chr6:78984121-78984122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115866185	chr6:78984144-78984145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9448343	chr6:78984145-78984146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs541137340	chr6:78984175-78984176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35440137	chr6:78999815-78999816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386702937	chr6:78999890-78999891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1093580	chr6:78999898-78999899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs532947458	chr6:78999907-78999908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190560669	chr6:78999930-78999931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569814177	chr6:78999949-78999950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529347298	chr6:78999952-78999953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117639293	chr6:78999961-78999962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566078604	chr6:78999965-78999966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573782749	chr6:79000005-79000006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558407325	chr6:79000006-79000007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571880841	chr6:79000060-79000061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs818301	chr6:79000103-79000104	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183548547	chr6:79000115-79000116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554021397	chr6:79000118-79000119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17729214	chr6:79000120-79000121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367925614	chr6:79000126-79000127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546805516	chr6:79000127-79000128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372221605	chr6:79000137-79000138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116827323	chr6:79000149-79000150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs818300	chr6:79000161-79000162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566537837	chr6:79000171-79000172	Enhancers	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	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	21272361	CNVD
Medulloblastoma	21163964	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78983200-78984200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:78999800-79000600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:79000000-79000400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:79010400-79011000	Enhancers	HMEC	breast
5	chr6:79011000-79012000	Weak transcription	HMEC	breast
6	chr6:79012200-79012400	Enhancers	HMEC	breast
7	chr6:79017800-79018000	ZNF genes & repeats	Aorta	Aorta
8	chr6:79018000-79020400	Weak transcription	Aorta	Aorta
9	chr6:79031400-79033200	Enhancers	Liver	Liver
10	chr6:79053800-79054200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:79054000-79057200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:79054200-79054600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:79054600-79056600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr6:79054800-79056200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:79054800-79056800	Enhancers	HUES6 Cell Line	embryonic stem cell

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