Variant report

Variant	nsv469947
Chromosome Location	chr11:25701663-25730008
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: 704 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:704 , 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	rs7930199	chr11:25701663-25701664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200547281	chr11:25701686-25701687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11028844	chr11:25701873-25701874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571404922	chr11:25701880-25701881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538831740	chr11:25702020-25702021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139484133	chr11:25702038-25702039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565820568	chr11:25702077-25702078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569888155	chr11:25702102-25702103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558950641	chr11:25702110-25702111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554571707	chr11:25702129-25702130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192655756	chr11:25702134-25702135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543452791	chr11:25702172-25702173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60229534	chr11:25702178-25702179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57182035	chr11:25702222-25702223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201381792	chr11:25702228-25702229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374637566	chr11:25702233-25702234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34106414	chr11:25702238-25702239	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541213922	chr11:25702252-25702253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs990473	chr11:25702271-25702272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78205148	chr11:25702301-25702302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73435211	chr11:25702322-25702323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113172619	chr11:25702324-25702325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531157703	chr11:25702327-25702328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542459831	chr11:25702368-25702369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563834489	chr11:25702385-25702386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531322818	chr11:25702464-25702465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74331017	chr11:25702503-25702504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571342121	chr11:25702562-25702563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372152411	chr11:25702594-25702595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148856065	chr11:25702599-25702600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145331869	chr11:25702608-25702609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565821223	chr11:25702610-25702611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536067753	chr11:25702612-25702613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77081367	chr11:25702627-25702628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569900271	chr11:25702639-25702640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536698969	chr11:25702646-25702647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537028185	chr11:25702661-25702662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558564424	chr11:25702663-25702664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370078361	chr11:25702673-25702674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576845445	chr11:25702679-25702680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200347447	chr11:25702691-25702692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541095843	chr11:25702722-25702723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528626101	chr11:25702785-25702786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146615077	chr11:25702789-25702790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574933754	chr11:25702794-25702795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542097656	chr11:25702852-25702853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112340049	chr11:25702929-25702930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564004047	chr11:25702934-25702935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531258280	chr11:25703044-25703045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534389465	chr11:25703050-25703051	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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