Variant report

Variant	esv2763965
Chromosome Location	chr6:77311145-77337483
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 843 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:843 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566386959	chr6:77316817-77316818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535442651	chr6:77316847-77316848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187956292	chr6:77316854-77316855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376925479	chr6:77316909-77316910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546604427	chr6:77317004-77317005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548165159	chr6:77317022-77317023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566463100	chr6:77317035-77317036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148157847	chr6:77317081-77317082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs57197985	chr6:77317084-77317085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200454108	chr6:77317090-77317091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201206727	chr6:77317091-77317092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192261649	chr6:77317101-77317102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527327710	chr6:77317104-77317105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143155902	chr6:77317125-77317126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1457971	chr6:77317134-77317135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs538821794	chr6:77317141-77317142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557552033	chr6:77317146-77317147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568965552	chr6:77317202-77317203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1457970	chr6:77317206-77317207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116566807	chr6:77317261-77317262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117045955	chr6:77317299-77317300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540652470	chr6:77317305-77317306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184597678	chr6:77317359-77317360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377365004	chr6:77317378-77317379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112119679	chr6:77317380-77317381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536079551	chr6:77317421-77317422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56763739	chr6:77317426-77317427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544028401	chr6:77317445-77317446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1457969	chr6:77317457-77317458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs56339799	chr6:77317605-77317606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147049691	chr6:77317606-77317607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138301939	chr6:77317608-77317609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543995836	chr6:77317640-77317641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574105455	chr6:77317651-77317652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189567498	chr6:77317655-77317656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1457968	chr6:77317683-77317684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs565410563	chr6:77317694-77317695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532845158	chr6:77317712-77317713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149552980	chr6:77317720-77317721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569100119	chr6:77317746-77317747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144402483	chr6:77317812-77317813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548257702	chr6:77317856-77317857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58431895	chr6:77317874-77317875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533908696	chr6:77317907-77317908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181573926	chr6:77317917-77317918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112308554	chr6:77317967-77317968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74369183	chr6:77318067-77318068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113770946	chr6:77318114-77318115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141566695	chr6:77318117-77318118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542079229	chr6:77318128-77318129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77316800-77322400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:77318600-77318800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:77318800-77319000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:77318800-77319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:77319000-77320200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:77319000-77320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:77319200-77319400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:77319400-77326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:77320200-77320400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:77320800-77321000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:77321000-77321400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:77321400-77322400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:77321400-77323200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:77321600-77322200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:77322200-77322600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:77322200-77323200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:77322200-77323400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:77322200-77323400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:77322400-77322800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:77322400-77323000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:77322400-77323000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:77322400-77323200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:77322600-77322800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:77322600-77323200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr6:77322600-77323200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:77322800-77323200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:77322800-77325200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:77322800-77337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:77323000-77323200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:77323200-77324800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:77323200-77326600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:77323200-77328400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:77323200-77328400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:77323200-77328600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:77323400-77328200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:77323400-77328200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:77324800-77325400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr6:77325200-77325400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:77325400-77325600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:77325600-77326000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:77326000-77328400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:77327800-77328000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr6:77328200-77328800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:77328200-77329000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:77328400-77328600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:77328400-77328600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:77328400-77329000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:77328600-77328800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:77328600-77329000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:77337400-77338200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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