Variant report

Variant	esv3470763
Chromosome Location	chr11:64190132-64193072
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	chr11:64189227..64191285-chr11:64196358..64198269,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10897504	chr11:64190137-64190138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540108672	chr11:64190240-64190241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78832543	chr11:64190299-64190300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566691337	chr11:64190301-64190302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535662803	chr11:64190345-64190346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375335362	chr11:64190397-64190398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190580407	chr11:64190451-64190452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574994059	chr11:64190465-64190466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182235900	chr11:64190482-64190483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557721671	chr11:64190510-64190511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185275675	chr11:64190540-64190541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548943280	chr11:64190547-64190548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568370980	chr11:64190578-64190579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116912434	chr11:64190601-64190602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73486179	chr11:64190628-64190629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376001750	chr11:64190635-64190636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573837111	chr11:64190730-64190731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542845670	chr11:64190741-64190742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7127926	chr11:64190767-64190768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148729472	chr11:64190803-64190804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs494998	chr11:64190816-64190817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564479450	chr11:64190826-64190827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533188745	chr11:64191045-64191046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551657110	chr11:64191150-64191151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571274313	chr11:64191154-64191155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566827662	chr11:64191162-64191163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141463606	chr11:64191181-64191182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549158973	chr11:64191209-64191210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571052676	chr11:64191252-64191253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190152653	chr11:64191255-64191256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537925804	chr11:64191259-64191260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112198913	chr11:64191277-64191278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112486567	chr11:64191289-64191290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577529288	chr11:64191332-64191333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533559148	chr11:64191353-64191354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139556584	chr11:64191362-64191363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573979347	chr11:64191370-64191371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542984411	chr11:64191381-64191382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10714621	chr11:64191384-64191385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541444696	chr11:64191397-64191398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398016386	chr11:64191398-64191399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557041255	chr11:64191421-64191422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181056393	chr11:64191474-64191475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576185465	chr11:64191480-64191481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185481635	chr11:64191508-64191509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564433415	chr11:64191600-64191601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189602570	chr11:64191664-64191665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576464216	chr11:64191767-64191768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542205514	chr11:64191773-64191774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546586648	chr11:64191786-64191787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	20877625	CNVD
Autism	22209245	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64182800-64196000	Weak transcription	H9 Cell Line	embryonic stem cell

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