Variant report

Variant	esv3474114
Chromosome Location	chr6:78009049-78012104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 99 )

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	rs368508887	chr6:78009049-78009050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151314840	chr6:78009086-78009087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367628404	chr6:78009108-78009109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183267071	chr6:78009109-78009110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372440687	chr6:78009141-78009142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370397478	chr6:78009157-78009158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34358382	chr6:78009159-78009160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551813340	chr6:78009164-78009165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569967951	chr6:78009184-78009185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537425902	chr6:78009204-78009205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542454031	chr6:78009208-78009209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546336251	chr6:78009214-78009215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561875009	chr6:78009240-78009241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534858116	chr6:78009274-78009275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553205746	chr6:78009311-78009312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187915842	chr6:78009312-78009313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544790055	chr6:78009313-78009314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563367554	chr6:78009316-78009317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140664331	chr6:78009325-78009326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192478483	chr6:78009335-78009336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560182157	chr6:78009336-78009337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6932428	chr6:78009357-78009358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542200032	chr6:78009369-78009370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565710966	chr6:78009391-78009392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183721503	chr6:78009392-78009393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575283058	chr6:78009397-78009398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10691002	chr6:78009443-78009444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77350768	chr6:78009445-78009446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs398002029	chr6:78009460-78009461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548774353	chr6:78009523-78009524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568807432	chr6:78009577-78009578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79111247	chr6:78009724-78009725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188087289	chr6:78009730-78009731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373146645	chr6:78009766-78009767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192751302	chr6:78009822-78009823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547639007	chr6:78009829-78009830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10943438	chr6:78009836-78009837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs12525774	chr6:78009941-78009942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537698867	chr6:78009982-78009983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570116284	chr6:78009996-78009997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184698969	chr6:78010010-78010011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72896678	chr6:78010047-78010048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549391922	chr6:78010126-78010127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544152129	chr6:78010138-78010139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76403620	chr6:78010185-78010186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553196228	chr6:78010192-78010193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190025964	chr6:78010207-78010208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182166010	chr6:78010220-78010221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556812786	chr6:78010338-78010339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186092572	chr6:78010429-78010430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78003400-78016200	Weak transcription	Aorta	Aorta
2	chr6:78004400-78017000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:78009000-78010400	Weak transcription	Hela-S3	cervix
4	chr6:78009000-78011400	Weak transcription	HUVEC	blood vessel
5	chr6:78010400-78011000	Enhancers	Hela-S3	cervix
6	chr6:78011400-78011800	Enhancers	HUVEC	blood vessel

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