Variant report

Variant	esv3474551
Chromosome Location	chr6:48934593-48939091
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	chr6:48925640..48928560-chr6:48933916..48936835,2	K562	blood:
2	chr6:48930520..48932119-chr6:48937053..48938837,2	MCF-7	breast:

Extended variants
information (count: 176 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17575533	chr6:48934594-48934595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114697354	chr6:48934633-48934634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16878501	chr6:48934634-48934635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73485186	chr6:48934645-48934646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113200449	chr6:48934650-48934651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541851282	chr6:48934675-48934676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12211304	chr6:48934698-48934699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111873044	chr6:48934712-48934713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538216346	chr6:48934770-48934771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565836051	chr6:48934802-48934803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545992509	chr6:48934816-48934817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552264430	chr6:48934846-48934847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149736102	chr6:48934924-48934925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191290215	chr6:48934952-48934953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534819985	chr6:48934965-48934966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17637574	chr6:48934975-48934976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371933822	chr6:48935003-48935004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574826548	chr6:48935023-48935024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568391125	chr6:48935027-48935028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574559983	chr6:48935028-48935029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547455705	chr6:48935035-48935036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543563893	chr6:48935055-48935056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145654228	chr6:48935061-48935062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534751342	chr6:48935089-48935090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114414546	chr6:48935102-48935103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551206682	chr6:48935119-48935120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149134646	chr6:48935121-48935122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142295034	chr6:48935135-48935136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78126650	chr6:48935140-48935141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558370709	chr6:48935174-48935175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151273644	chr6:48935179-48935180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2179180	chr6:48935220-48935221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs554006011	chr6:48935258-48935259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572353951	chr6:48935281-48935282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546151190	chr6:48935283-48935284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142595417	chr6:48935291-48935292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141602941	chr6:48935377-48935378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147065531	chr6:48935396-48935397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182608761	chr6:48935397-48935398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112012139	chr6:48935415-48935416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529056390	chr6:48935425-48935426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578107007	chr6:48935444-48935445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547715323	chr6:48935584-48935585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559656312	chr6:48935668-48935669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532802014	chr6:48935767-48935768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143171250	chr6:48935768-48935769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551337954	chr6:48935785-48935786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191225084	chr6:48935787-48935788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537150146	chr6:48935859-48935860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560120008	chr6:48935905-48935906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48832200-48944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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