Variant report

Variant	esv3342761
Chromosome Location	chr6:48986918-48989241
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	chr6:48981721..48984631-chr6:48985327..48987598,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374307090	chr6:48986918-48986919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573988292	chr6:48986937-48986938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573580772	chr6:48986968-48986969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114304866	chr6:48986990-48986991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10948473	chr6:48987090-48987091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs182597430	chr6:48987091-48987092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187378034	chr6:48987238-48987239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562867481	chr6:48987305-48987306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192099896	chr6:48987307-48987308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550492521	chr6:48987337-48987338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182983746	chr6:48987349-48987350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535849641	chr6:48987390-48987391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370965115	chr6:48987473-48987474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566184947	chr6:48987496-48987497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78654929	chr6:48987533-48987534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575246620	chr6:48987570-48987571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113482367	chr6:48987587-48987588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78733613	chr6:48987611-48987612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557567554	chr6:48987617-48987618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367741742	chr6:48987620-48987621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372630727	chr6:48987622-48987623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538073442	chr6:48987628-48987629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144012824	chr6:48987631-48987632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575825292	chr6:48987632-48987633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11970213	chr6:48987645-48987646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs113661501	chr6:48987647-48987648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113848913	chr6:48987667-48987668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111564452	chr6:48987674-48987675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77505344	chr6:48987680-48987681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62412795	chr6:48987682-48987683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs375765980	chr6:48987707-48987708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62412796	chr6:48987726-48987727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62412797	chr6:48987728-48987729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200525616	chr6:48987729-48987730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367951694	chr6:48987732-48987733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373415046	chr6:48987750-48987751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80219266	chr6:48987751-48987752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187613831	chr6:48987753-48987754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111209747	chr6:48987770-48987771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559059210	chr6:48987788-48987789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577841474	chr6:48987796-48987797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145686187	chr6:48987798-48987799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564715689	chr6:48987804-48987805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192243618	chr6:48987834-48987835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62636144	chr6:48987841-48987842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs62636145	chr6:48987856-48987857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529531631	chr6:48987860-48987861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547797348	chr6:48987862-48987863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375155025	chr6:48987869-48987870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370810991	chr6:48987872-48987873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Melanoma	18172304	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
Hodgkin''s lymphoma	17606441	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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48972800-48993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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