Variant report

Variant	esv14476
Chromosome Location	chr11:17593003-17594228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531207130	chr11:17593066-17593067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2240491	chr11:17593115-17593116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556324032	chr11:17593218-17593219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144665363	chr11:17593232-17593233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148516517	chr11:17593239-17593240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376991305	chr11:17593243-17593244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546762371	chr11:17593256-17593257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571352216	chr11:17593267-17593268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7117519	chr11:17593273-17593274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556871067	chr11:17593282-17593283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149158412	chr11:17593306-17593307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569081377	chr11:17593309-17593310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112606937	chr11:17593321-17593322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112213712	chr11:17593323-17593324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190235627	chr11:17593324-17593325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561130193	chr11:17593327-17593328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142809427	chr11:17593328-17593329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7117645	chr11:17593329-17593330	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553092374	chr11:17593332-17593333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182457613	chr11:17593333-17593334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186903753	chr11:17593336-17593337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545022754	chr11:17593340-17593341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147737357	chr11:17593341-17593342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142640917	chr11:17593399-17593400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543332537	chr11:17593404-17593405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192747672	chr11:17593453-17593454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11819944	chr11:17593494-17593495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532682447	chr11:17593571-17593572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547173007	chr11:17593655-17593656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564978061	chr11:17593697-17593698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532219946	chr11:17593702-17593703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386751105	chr11:17593707-17593708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7106548	chr11:17593709-17593710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568871254	chr11:17593713-17593714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370567684	chr11:17593732-17593733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569465367	chr11:17593735-17593736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535850558	chr11:17593739-17593740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536430418	chr11:17593762-17593763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12098886	chr11:17593802-17593803	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184158783	chr11:17593831-17593832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537655117	chr11:17593832-17593833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533747831	chr11:17593835-17593836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201910492	chr11:17593861-17593862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116006748	chr11:17593908-17593909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7932300	chr11:17593971-17593972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557153259	chr11:17594000-17594001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575640189	chr11:17594013-17594014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542644742	chr11:17594027-17594028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561633312	chr11:17594046-17594047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573528068	chr11:17594070-17594071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
small cell lung cancer	20016488	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	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17574400-17596200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17592000-17593200	Weak transcription	Fetal Heart	heart
3	chr11:17593200-17594400	Enhancers	Fetal Heart	heart
4	chr11:17593600-17594600	Enhancers	Fetal Thymus	thymus
5	chr11:17593600-17594600	Enhancers	K562	blood
6	chr11:17593800-17594600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:17593800-17594600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:17594000-17594600	Enhancers	Primary T cells from cord blood	blood
9	chr11:17594200-17594600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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