Variant report

Variant	esv3389911
Chromosome Location	chr6:55950343-55951391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12196860	chr6:55950374-55950375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs561876786	chr6:55950375-55950376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565252897	chr6:55950407-55950408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572071060	chr6:55950422-55950423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10807507	chr6:55950432-55950433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190469715	chr6:55950433-55950434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561804598	chr6:55950436-55950437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4596475	chr6:55950444-55950445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549365095	chr6:55950531-55950532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561186262	chr6:55950533-55950534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531844852	chr6:55950594-55950595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111333818	chr6:55950610-55950611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138642146	chr6:55950646-55950647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79848608	chr6:55950664-55950665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201231521	chr6:55950757-55950758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373117601	chr6:55950758-55950759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79735622	chr6:55950759-55950760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10807508	chr6:55950812-55950813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533397667	chr6:55950823-55950824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373520922	chr6:55950851-55950852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570934495	chr6:55950882-55950883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539887188	chr6:55950928-55950929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556585655	chr6:55950968-55950969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180862131	chr6:55951009-55951010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36073015	chr6:55951025-55951026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73745556	chr6:55951032-55951033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555290568	chr6:55951133-55951134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79759716	chr6:55951134-55951135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201830475	chr6:55951223-55951224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199779520	chr6:55951224-55951225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563886885	chr6:55951225-55951226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12198686	chr6:55951231-55951232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185964894	chr6:55951279-55951280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562896700	chr6:55951324-55951325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551114284	chr6:55951339-55951340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111422723	chr6:55951350-55951351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148883811	chr6:55951361-55951362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562228565	chr6:55951386-55951387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55920600-56018400	Weak transcription	Ovary	ovary
2	chr6:55929000-55956200	Weak transcription	Aorta	Aorta
3	chr6:55933200-55961000	Weak transcription	Placenta	Placenta
4	chr6:55941200-55951600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:55941200-55952000	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:55941600-55951400	Weak transcription	Fetal Lung	lung
7	chr6:55948200-55953600	Weak transcription	Left Ventricle	heart
8	chr6:55949800-55951600	Weak transcription	Fetal Heart	heart
9	chr6:55951000-55951600	Weak transcription	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links