Variant report

Variant	esv3369021
Chromosome Location	chr6:54244893-54247041
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	chr6:54239793..54241712-chr6:54244311..54245976,2	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189327061	chr6:54244916-54244917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181982650	chr6:54244920-54244921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185118704	chr6:54244937-54244938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115025885	chr6:54244965-54244966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377318432	chr6:54244971-54244972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531852529	chr6:54244973-54244974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12055413	chr6:54244975-54244976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568290602	chr6:54244985-54244986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534155303	chr6:54244987-54244988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546927279	chr6:54244996-54244997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547079455	chr6:54245010-54245011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570498215	chr6:54245015-54245016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77646820	chr6:54245065-54245066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398001628	chr6:54245066-54245067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571894961	chr6:54245084-54245085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543046160	chr6:54245143-54245144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114159081	chr6:54245179-54245180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535718832	chr6:54245235-54245236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555734304	chr6:54245238-54245239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71558875	chr6:54245249-54245250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191057180	chr6:54245262-54245263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16885273	chr6:54245270-54245271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs182997607	chr6:54245282-54245283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112878820	chr6:54245284-54245285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577230456	chr6:54245292-54245293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201145940	chr6:54245297-54245298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374059886	chr6:54245307-54245308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140637807	chr6:54245320-54245321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371132962	chr6:54245321-54245322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147405762	chr6:54245326-54245327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200616747	chr6:54245366-54245367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139635385	chr6:54245367-54245368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12153943	chr6:54245392-54245393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377120094	chr6:54245416-54245417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7744458	chr6:54245448-54245449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527874308	chr6:54245465-54245466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547627252	chr6:54245478-54245479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532324835	chr6:54245483-54245484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144969710	chr6:54245502-54245503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3777636	chr6:54245503-54245504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112147089	chr6:54245519-54245520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536307560	chr6:54245520-54245521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549870967	chr6:54245609-54245610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569527940	chr6:54245612-54245613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191525063	chr6:54245644-54245645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182769997	chr6:54245690-54245691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs3777635	chr6:54245692-54245693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534928002	chr6:54245707-54245708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143042177	chr6:54245761-54245762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10639072	chr6:54245778-54245779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Prostate cancer	18632612	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
Breast cancer	21785460	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
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54211800-54256200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:54212000-54257400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:54243000-54250800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links