Variant report

Variant	nsv553878
Chromosome Location	chr11:25700989-25720706
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	chr11:25709860..25710784-chr18:64774033..64774666,2	MCF-7	breast:

Extended variants
information (count: 729 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1493664	chr11:25700989-25700990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554097433	chr11:25701012-25701013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576194157	chr11:25701057-25701058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572351676	chr11:25701094-25701095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34542441	chr11:25701106-25701107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76090362	chr11:25701116-25701117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145310997	chr11:25701154-25701155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576382187	chr11:25701209-25701210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187784265	chr11:25701248-25701249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565049053	chr11:25701249-25701250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532559165	chr11:25701266-25701267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547634827	chr11:25701279-25701280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1159086	chr11:25701312-25701313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1159087	chr11:25701351-25701352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530461876	chr11:25701388-25701389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548614566	chr11:25701442-25701443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568447630	chr11:25701447-25701448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201938590	chr11:25701451-25701452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569499190	chr11:25701452-25701453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370806218	chr11:25701506-25701507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555063274	chr11:25701517-25701518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377503561	chr11:25701520-25701521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376085057	chr11:25701624-25701625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3222075	chr11:25701625-25701626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3050029	chr11:25701659-25701660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7930199	chr11:25701663-25701664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs200547281	chr11:25701686-25701687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11028844	chr11:25701873-25701874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571404922	chr11:25701880-25701881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538831740	chr11:25702020-25702021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139484133	chr11:25702038-25702039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565820568	chr11:25702077-25702078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569888155	chr11:25702102-25702103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558950641	chr11:25702110-25702111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554571707	chr11:25702129-25702130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192655756	chr11:25702134-25702135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543452791	chr11:25702172-25702173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60229534	chr11:25702178-25702179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57182035	chr11:25702222-25702223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201381792	chr11:25702228-25702229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374637566	chr11:25702233-25702234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34106414	chr11:25702238-25702239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541213922	chr11:25702252-25702253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs990473	chr11:25702271-25702272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78205148	chr11:25702301-25702302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73435211	chr11:25702322-25702323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113172619	chr11:25702324-25702325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531157703	chr11:25702327-25702328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542459831	chr11:25702368-25702369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563834489	chr11:25702385-25702386	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25698800-25702200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:25702200-25703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:25702800-25703600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:25703000-25703400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:25703600-25716200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:25705200-25705600	Enhancers	Fetal Brain Male	brain
7	chr11:25713000-25713400	Enhancers	Brain Germinal Matrix	brain
8	chr11:25716200-25718200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:25718200-25718800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:25718400-25718800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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