Variant report

Variant	nsv553823
Chromosome Location	chr11:24778111-24788677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2716548	chr11:24778111-24778112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541318164	chr11:24778162-24778163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374993326	chr11:24778163-24778164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12224130	chr11:24778164-24778165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113627164	chr11:24778172-24778173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563335333	chr11:24778182-24778183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75133739	chr11:24778191-24778192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542406907	chr11:24778244-24778245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74383428	chr11:24778268-24778269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540624626	chr11:24778319-24778320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539512660	chr11:24778349-24778350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185868180	chr11:24778379-24778380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558933883	chr11:24778388-24778389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570825688	chr11:24778418-24778419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2631414	chr11:24778433-24778434	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139624492	chr11:24778439-24778440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188293663	chr11:24778440-24778441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369093379	chr11:24778457-24778458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12422212	chr11:24778459-24778460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180909567	chr11:24778501-24778502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145306070	chr11:24778502-24778503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145066391	chr11:24778521-24778522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558053656	chr11:24778524-24778525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563672780	chr11:24778534-24778535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562855680	chr11:24778592-24778593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578007565	chr11:24778615-24778616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543597398	chr11:24778624-24778625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557117397	chr11:24778639-24778640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117794317	chr11:24778685-24778686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186154775	chr11:24778696-24778697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559202266	chr11:24778699-24778700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2129355	chr11:24778705-24778706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544614370	chr11:24778735-24778736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564392082	chr11:24778742-24778743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533441212	chr11:24778757-24778758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149106760	chr11:24778850-24778851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190910862	chr11:24778866-24778867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183289415	chr11:24778870-24778871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373148040	chr11:24778890-24778891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556625545	chr11:24778900-24778901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370698858	chr11:24778938-24778939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566057082	chr11:24778953-24778954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2129354	chr11:24778961-24778962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376308555	chr11:24778985-24778986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143586829	chr11:24779023-24779024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112259719	chr11:24779105-24779106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574257733	chr11:24779114-24779115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571717635	chr11:24779143-24779144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539060206	chr11:24779181-24779182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537334578	chr11:24779249-24779250	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24769000-24779000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:24777400-24778400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:24777600-24778400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:24777600-24781800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:24777800-24778600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:24778400-24778600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:24781800-24782000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:24782200-24783000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:24782800-24783200	Enhancers	Primary B cells from peripheral blood	blood

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