Variant report

Variant	esv1795503
Chromosome Location	chr6:78361099-78381915
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	chr6:78356313..78359113-chr6:78364118..78365918,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555474193	chr6:78361139-78361140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9341678	chr6:78361170-78361171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9361259	chr6:78361184-78361185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73475153	chr6:78361220-78361221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537879793	chr6:78361252-78361253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143102756	chr6:78361259-78361260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148220272	chr6:78361279-78361280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574249909	chr6:78361285-78361286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141180424	chr6:78361312-78361313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559807930	chr6:78361317-78361318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527236855	chr6:78361323-78361324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150725339	chr6:78361347-78361348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564133842	chr6:78361365-78361366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs137886685	chr6:78361367-78361368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186297672	chr6:78361370-78361371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189858396	chr6:78361430-78361431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558851137	chr6:78361527-78361528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535376564	chr6:78361540-78361541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576894595	chr6:78361553-78361554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143769257	chr6:78361582-78361583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535579999	chr6:78361600-78361601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534666873	chr6:78361616-78361617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557765643	chr6:78361663-78361664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544005810	chr6:78361706-78361707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182164101	chr6:78361805-78361806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147217059	chr6:78361816-78361817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555827788	chr6:78361966-78361967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557265999	chr6:78361967-78361968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188319617	chr6:78362062-78362063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542853278	chr6:78362073-78362074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140556433	chr6:78362096-78362097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113266246	chr6:78362105-78362106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541010341	chr6:78362136-78362137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13208591	chr6:78362150-78362151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79779758	chr6:78362155-78362156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541375749	chr6:78362213-78362214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79308700	chr6:78362219-78362220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560023598	chr6:78362243-78362244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6902089	chr6:78362253-78362254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563246755	chr6:78362317-78362318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529057678	chr6:78362327-78362328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548920953	chr6:78362395-78362396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144414422	chr6:78362439-78362440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6925275	chr6:78362453-78362454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183270291	chr6:78362476-78362477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144526549	chr6:78362512-78362513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571349640	chr6:78362572-78362573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537062634	chr6:78362589-78362590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557382248	chr6:78362595-78362596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148538413	chr6:78362618-78362619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78355000-78362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:78360200-78362000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:78360200-78363600	Weak transcription	Liver	Liver
4	chr6:78360600-78363800	Weak transcription	Pancreas	Pancrea
5	chr6:78360800-78361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:78360800-78362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:78361600-78362400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr6:78362000-78362600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr6:78362400-78362800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:78362400-78363200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:78363400-78364000	Enhancers	Stomach Mucosa	stomach
12	chr6:78363600-78364200	Enhancers	Liver	Liver
13	chr6:78373200-78373600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:78373200-78373600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:78381400-78381800	Enhancers	Stomach Mucosa	stomach
16	chr6:78381400-78382000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:78381800-78383000	Weak transcription	Stomach Mucosa	stomach

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