Variant report

Variant	nsv553869
Chromosome Location	chr11:25560116-25585107
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	chr11:25576575..25578534-chr11:25581809..25585257,3	K562	blood:
2	chr11:25576575..25578534-chr11:25581809..25585257,3	K562	blood:

Extended variants
information (count: 379 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569175642	chr11:25565806-25565807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67768061	chr11:25565811-25565812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200479396	chr11:25565813-25565814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201487057	chr11:25565816-25565817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539730257	chr11:25565820-25565821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137981505	chr11:25565854-25565855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142987401	chr11:25565930-25565931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555663221	chr11:25565996-25565997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10501014	chr11:25566003-25566004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10834708	chr11:25566008-25566009	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574590045	chr11:25566016-25566017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542019635	chr11:25566021-25566022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557206344	chr11:25566107-25566108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575542700	chr11:25566109-25566110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145673542	chr11:25566130-25566131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377229622	chr11:25566133-25566134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149832831	chr11:25566164-25566165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546054872	chr11:25566189-25566190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553179576	chr11:25566237-25566238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188244492	chr11:25566244-25566245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375502060	chr11:25566264-25566265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374709842	chr11:25566281-25566282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16914111	chr11:25566282-25566283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561798509	chr11:25566287-25566288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529367721	chr11:25566325-25566326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146118381	chr11:25566333-25566334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569088035	chr11:25566385-25566386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533406472	chr11:25566390-25566391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552042785	chr11:25566406-25566407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567063410	chr11:25566422-25566423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534567102	chr11:25566445-25566446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375109274	chr11:25566511-25566512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552718869	chr11:25566543-25566544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35214901	chr11:25566570-25566571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568125760	chr11:25566574-25566575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535525935	chr11:25566593-25566594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80229618	chr11:25566602-25566603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28498428	chr11:25566607-25566608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs28508222	chr11:25566650-25566651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35339564	chr11:25566661-25566662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377259416	chr11:25566668-25566669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11827529	chr11:25566692-25566693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74417168	chr11:25566727-25566728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561732915	chr11:25566730-25566731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80141195	chr11:25566761-25566762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114399773	chr11:25566770-25566771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142855977	chr11:25566783-25566784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562684429	chr11:25566786-25566787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192936717	chr11:25566819-25566820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10734360	chr11:25566822-25566823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25565800-25566600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr11:25566200-25566400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:25566400-25568800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:25566600-25569600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:25568400-25569000	Enhancers	Fetal Muscle Leg	muscle
6	chr11:25568800-25569000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:25568800-25569200	Enhancers	Fetal Stomach	stomach
8	chr11:25569000-25569600	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:25569000-25569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:25569000-25570200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:25569600-25569800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:25569600-25570200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:25569600-25570200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:25569800-25570200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:25579200-25579600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:25581000-25581400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:25581000-25581800	Enhancers	NHEK	skin
18	chr11:25581400-25586400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:25581800-25587800	Weak transcription	NHEK	skin
20	chr11:25583600-25585000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:25584000-25584400	Enhancers	Fetal Heart	heart
22	chr11:25584200-25584600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:25585000-25586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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