Variant report

Variant	nsv553876
Chromosome Location	chr11:25684820-25710784
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	chr11:25619794..25621822-chr11:25698109..25699950,2	K562	blood:
3	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:
4	chr11:25689568..25691114-chr11:25691280..25694068,2	K562	blood:

Extended variants
information (count: 806 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:806 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1389408	chr11:25684820-25684821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187233371	chr11:25684838-25684839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553171663	chr11:25684852-25684853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7939442	chr11:25684865-25684866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535386013	chr11:25684883-25684884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1389409	chr11:25684918-25684919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575209252	chr11:25684953-25684954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377287719	chr11:25684955-25684956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143039499	chr11:25684960-25684961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7942416	chr11:25684962-25684963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540468011	chr11:25685034-25685035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562335905	chr11:25685102-25685103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80042659	chr11:25685129-25685130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374907420	chr11:25685135-25685136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563197470	chr11:25685155-25685156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530468744	chr11:25685185-25685186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73433394	chr11:25685211-25685212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570442911	chr11:25685219-25685220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534759818	chr11:25685281-25685282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375331476	chr11:25685299-25685300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569278088	chr11:25685303-25685304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368564480	chr11:25685304-25685305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71311924	chr11:25685313-25685314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192831912	chr11:25685314-25685315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372334416	chr11:25685325-25685326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536239837	chr11:25685339-25685340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567945924	chr11:25685356-25685357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148184555	chr11:25685391-25685392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113305290	chr11:25685394-25685395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184363962	chr11:25685398-25685399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539443600	chr11:25685402-25685403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558179932	chr11:25685417-25685418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368569428	chr11:25685422-25685423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571097454	chr11:25685433-25685434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562056069	chr11:25685447-25685448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116924857	chr11:25685470-25685471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544822195	chr11:25685567-25685568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140136775	chr11:25685583-25685584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143985206	chr11:25685586-25685587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75564166	chr11:25685667-25685668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545476195	chr11:25685683-25685684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564136091	chr11:25685702-25685703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538535358	chr11:25685719-25685720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546649252	chr11:25685772-25685773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1018027	chr11:25685820-25685821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75555649	chr11:25685821-25685822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77440895	chr11:25685823-25685824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs67765303	chr11:25685833-25685834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1018029	chr11:25685834-25685835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577395105	chr11:25685851-25685852	Enhancers	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25678000-25685800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:25685800-25686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:25686000-25691600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:25688000-25688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:25688600-25689800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:25689800-25690000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:25690000-25691200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:25690200-25690600	Enhancers	Ovary	ovary
9	chr11:25691600-25691800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:25697400-25698000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:25698000-25698800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:25705200-25705600	Enhancers	Fetal Brain Male	brain

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