Variant report

Variant	esv3452021
Chromosome Location	chr11:24690576-24694274
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	chr11:24630589..24632702-chr11:24693704..24695798,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375220269	chr11:24690579-24690580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370741763	chr11:24690621-24690622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558145907	chr11:24690635-24690636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532071864	chr11:24690642-24690643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369192179	chr11:24690646-24690647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578149358	chr11:24690652-24690653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543908514	chr11:24690655-24690656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376705314	chr11:24690678-24690679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189008440	chr11:24690696-24690697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573730420	chr11:24690752-24690753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548369876	chr11:24690840-24690841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377556016	chr11:24690882-24690883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559375742	chr11:24690949-24690950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550381020	chr11:24690958-24690959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12576065	chr11:24691059-24691060	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs529382881	chr11:24691062-24691063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71474715	chr11:24691104-24691105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544606605	chr11:24691128-24691129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181489264	chr11:24691151-24691152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574051566	chr11:24691177-24691178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187049707	chr11:24691180-24691181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570260500	chr11:24691201-24691202	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564163361	chr11:24691244-24691245	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs190981743	chr11:24691259-24691260	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547575005	chr11:24691260-24691261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566255008	chr11:24691263-24691264	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535292185	chr11:24691286-24691287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566021365	chr11:24691331-24691332	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111376363	chr11:24691332-24691333	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs558207121	chr11:24691497-24691498	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571637043	chr11:24691508-24691509	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs73434995	chr11:24691520-24691521	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs557169878	chr11:24691526-24691527	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs115463716	chr11:24691531-24691532	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542464195	chr11:24691554-24691555	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553084112	chr11:24691585-24691586	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183300727	chr11:24691627-24691628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185905025	chr11:24691636-24691637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367818018	chr11:24691674-24691675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564571821	chr11:24691706-24691707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7944845	chr11:24691773-24691774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543950477	chr11:24691784-24691785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113089481	chr11:24691806-24691807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541372402	chr11:24691823-24691824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559501237	chr11:24691853-24691854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79887077	chr11:24691855-24691856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566239344	chr11:24691895-24691896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144956179	chr11:24691899-24691900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552089188	chr11:24691900-24691901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191202903	chr11:24691904-24691905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24686200-24691200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:24689800-24692000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:24690400-24690800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:24690400-24691400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr11:24690400-24692000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:24690400-24692000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:24690600-24692000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:24690800-24691000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr11:24690800-24691200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:24691200-24691600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:24691200-24691800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:24691800-24692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr11:24691800-24700200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:24692000-24700000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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