Variant report

Variant	nsv517418
Chromosome Location	chr11:25616540-25625889
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	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:

Extended variants
information (count: 340 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16914165	chr11:25616540-25616541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574982749	chr11:25616581-25616582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568728704	chr11:25616583-25616584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563307376	chr11:25616626-25616627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74763394	chr11:25616631-25616632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529510948	chr11:25616645-25616646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545913035	chr11:25616658-25616659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184373968	chr11:25616682-25616683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs36121785	chr11:25616689-25616690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528625168	chr11:25616723-25616724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547169122	chr11:25616727-25616728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536613068	chr11:25616794-25616795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568683103	chr11:25616834-25616835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547954714	chr11:25616846-25616847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529579060	chr11:25616862-25616863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189260729	chr11:25616872-25616873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76700377	chr11:25616879-25616880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73431369	chr11:25616912-25616913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377054166	chr11:25616923-25616924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554116973	chr11:25616970-25616971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551923908	chr11:25616972-25616973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112327095	chr11:25616973-25616974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10742102	chr11:25616975-25616976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370254546	chr11:25616976-25616977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71447426	chr11:25616979-25616980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367810181	chr11:25616980-25616981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202200698	chr11:25616982-25616983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142982612	chr11:25617015-25617016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552708522	chr11:25617026-25617027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72872905	chr11:25617101-25617102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556229486	chr11:25617105-25617106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535336702	chr11:25617150-25617151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556823280	chr11:25617171-25617172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574655912	chr11:25617217-25617218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546175788	chr11:25617220-25617221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564326993	chr11:25617221-25617222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535326187	chr11:25617247-25617248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143724363	chr11:25617250-25617251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187654203	chr11:25617277-25617278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148112490	chr11:25617301-25617302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529491331	chr11:25617339-25617340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190837699	chr11:25617357-25617358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563185744	chr11:25617369-25617370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533499206	chr11:25617370-25617371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376175535	chr11:25617391-25617392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141282614	chr11:25617400-25617401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570361768	chr11:25617427-25617428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534379770	chr11:25617455-25617456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113342664	chr11:25617483-25617484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371645360	chr11:25617486-25617487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25615800-25617400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:25616000-25619400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:25617400-25620200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:25619200-25619600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:25619400-25619800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:25619400-25619800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:25619600-25623400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:25619800-25623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:25620200-25623800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:25623000-25623200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:25623400-25624400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:25623400-25624400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:25623400-25624400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:25623400-25624600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr11:25623800-25624000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:25623800-25624000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:25624000-25624400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:25624400-25624800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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