Variant report

Variant	nsv553874
Chromosome Location	chr11:25674033-25730008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:25709860..25710784-chr18:64774033..64774666,2	MCF-7	breast:
2	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
3	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
4	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:

Extended variants
information (count: 1625 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1625 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372512891	chr11:25675016-25675017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373624781	chr11:25675057-25675058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527996793	chr11:25675090-25675091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115723312	chr11:25675106-25675107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147955751	chr11:25675109-25675110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535511353	chr11:25675112-25675113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141815854	chr11:25675185-25675186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568947984	chr11:25675186-25675187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77561121	chr11:25675195-25675196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147037369	chr11:25675197-25675198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141408676	chr11:25675217-25675218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113587198	chr11:25675221-25675222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112106455	chr11:25675222-25675223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72875140	chr11:25675223-25675224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28490123	chr11:25675225-25675226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28373472	chr11:25675238-25675239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28680935	chr11:25675240-25675241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563501224	chr11:25675246-25675247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371900467	chr11:25675247-25675248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71044385	chr11:25675248-25675249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12803103	chr11:25675249-25675250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184924141	chr11:25675263-25675264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188599147	chr11:25675265-25675266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112543367	chr11:25675389-25675390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555716685	chr11:25675422-25675423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140510035	chr11:25675518-25675519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180922701	chr11:25675569-25675570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185144224	chr11:25675625-25675626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189468505	chr11:25675686-25675687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7358410	chr11:25675720-25675721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545574664	chr11:25675737-25675738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560705125	chr11:25675742-25675743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539610211	chr11:25675750-25675751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138267860	chr11:25675759-25675760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567968780	chr11:25675764-25675765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528847772	chr11:25675770-25675771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182065113	chr11:25675776-25675777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550558538	chr11:25675777-25675778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187345939	chr11:25675823-25675824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568812517	chr11:25675875-25675876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61885915	chr11:25675882-25675883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7358293	chr11:25675884-25675885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs566363902	chr11:25675894-25675895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527487623	chr11:25675915-25675916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568200292	chr11:25675941-25675942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555347370	chr11:25675950-25675951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6484158	chr11:25675963-25675964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73433370	chr11:25676005-25676006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191725532	chr11:25676032-25676033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72875147	chr11:25676053-25676054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25675000-25677800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:25677400-25678000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:25677800-25678000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:25678000-25685800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:25680400-25681200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:25680600-25681000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:25681400-25681800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:25685800-25686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:25686000-25691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:25688000-25688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:25688600-25689800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:25689800-25690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:25690000-25691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:25690200-25690600	Enhancers	Ovary	ovary
15	chr11:25691600-25691800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:25697400-25698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:25698000-25698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:25705200-25705600	Enhancers	Fetal Brain Male	brain
24	chr11:25713000-25713400	Enhancers	Brain Germinal Matrix	brain
25	chr11:25716200-25718200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:25718200-25718800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:25718400-25718800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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