Variant report

Variant	esv3353696
Chromosome Location	chr6:77282933-77284831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547191558	chr6:77282934-77282935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571901769	chr6:77282946-77282947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77158616	chr6:77283057-77283058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199720151	chr6:77283091-77283092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149472461	chr6:77283095-77283096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145001994	chr6:77283096-77283097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35044629	chr6:77283097-77283098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543383925	chr6:77283103-77283104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561701176	chr6:77283180-77283181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550815924	chr6:77283200-77283201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10455102	chr6:77283205-77283206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536243909	chr6:77283286-77283287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143704545	chr6:77283354-77283355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566410581	chr6:77283367-77283368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190843705	chr6:77283380-77283381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138265118	chr6:77283525-77283526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576650686	chr6:77283538-77283539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541301837	chr6:77283572-77283573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35401780	chr6:77283596-77283597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202007480	chr6:77283607-77283608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199855024	chr6:77283609-77283610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374549652	chr6:77283610-77283611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs70974612	chr6:77283634-77283635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201191589	chr6:77283645-77283646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71911611	chr6:77283716-77283717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555994409	chr6:77283796-77283797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574514336	chr6:77283885-77283886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541456735	chr6:77283928-77283929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148877723	chr6:77284050-77284051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533118507	chr6:77284060-77284061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560218022	chr6:77284103-77284104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200221141	chr6:77284128-77284129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386702843	chr6:77284130-77284131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4275027	chr6:77284131-77284132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369427278	chr6:77284159-77284160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113795676	chr6:77284196-77284197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371423887	chr6:77284261-77284262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9352353	chr6:77284330-77284331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs181747732	chr6:77284332-77284333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550135993	chr6:77284347-77284348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551198603	chr6:77284348-77284349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186265527	chr6:77284419-77284420	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4275028	chr6:77284422-77284423	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190666152	chr6:77284423-77284424	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566543187	chr6:77284473-77284474	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116099510	chr6:77284505-77284506	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552057732	chr6:77284526-77284527	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113023508	chr6:77284571-77284572	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537634149	chr6:77284606-77284607	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556370131	chr6:77284659-77284660	Flanking Active TSS Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77274400-77284600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:77277200-77284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:77277600-77284000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:77277600-77284400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:77278400-77284200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:77280200-77283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:77281600-77284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:77281600-77288600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:77282000-77283600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:77282400-77285000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:77282600-77283000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:77282600-77283400	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:77282600-77285200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:77282800-77284400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:77283000-77284000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:77283400-77283600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:77283400-77289000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:77283600-77284000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:77284000-77284400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr6:77284000-77285000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:77284000-77285200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:77284000-77285200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:77284200-77284400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:77284200-77284600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr6:77284200-77285200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:77284400-77284600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:77284400-77284600	Enhancers	Fetal Heart	heart
28	chr6:77284400-77284800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:77284400-77285200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:77284400-77285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:77284600-77284800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr6:77284600-77285200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr6:77284600-77303000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:77284800-77285000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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