Variant report

Variant	nsv819020
Chromosome Location	chr11:10580345-10582151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10571236..10574096-chr11:10580383..10582938,2	K562	blood:
2	chr11:10580566..10582619-chr11:10604705..10606286,2	K562	blood:
3	chr11:10576017..10579798-chr11:10580580..10584419,4	K562	blood:
4	chr11:10576643..10580187-chr11:10581255..10583331,3	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555530947	chr11:10580401-10580402	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566170760	chr11:10580409-10580410	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151226444	chr11:10580423-10580424	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372368979	chr11:10580425-10580426	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140431627	chr11:10580431-10580432	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184099068	chr11:10580448-10580449	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113413732	chr11:10580513-10580514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185184285	chr11:10580524-10580525	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112264167	chr11:10580540-10580541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529181619	chr11:10580576-10580577	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549348229	chr11:10580607-10580608	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569028822	chr11:10580621-10580622	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150403710	chr11:10580635-10580636	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74836380	chr11:10580636-10580637	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138276756	chr11:10580644-10580645	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7948666	chr11:10580684-10580685	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs553314813	chr11:10580685-10580686	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370620371	chr11:10580694-10580695	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147714545	chr11:10580716-10580717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566792465	chr11:10580724-10580725	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535742623	chr11:10580741-10580742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142573261	chr11:10580770-10580771	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117443264	chr11:10580792-10580793	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374042493	chr11:10580876-10580877	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368146565	chr11:10580886-10580887	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182598512	chr11:10580887-10580888	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544415231	chr11:10580932-10580933	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187307008	chr11:10580992-10580993	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577643551	chr11:10580996-10580997	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539996119	chr11:10581021-10581022	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193090850	chr11:10581027-10581028	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539278832	chr11:10581060-10581061	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142842072	chr11:10581086-10581087	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115130460	chr11:10581088-10581089	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57382711	chr11:10581098-10581099	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs60048226	chr11:10581099-10581100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562786804	chr11:10581123-10581124	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111476376	chr11:10581126-10581127	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201566870	chr11:10581127-10581128	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12291856	chr11:10581179-10581180	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17318955	chr11:10581191-10581192	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548056816	chr11:10581207-10581208	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17403795	chr11:10581217-10581218	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs566810409	chr11:10581254-10581255	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139395742	chr11:10581261-10581262	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183625653	chr11:10581297-10581298	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549228485	chr11:10581305-10581306	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569228657	chr11:10581319-10581320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370002783	chr11:10581326-10581327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538173495	chr11:10581334-10581335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroblastoma	18923524	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10573000-10603200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10576000-10585800	Weak transcription	Placenta	Placenta
3	chr11:10576200-10583600	Weak transcription	Spleen	Spleen
4	chr11:10578200-10583800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:10578200-10590000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:10578600-10580600	Enhancers	Fetal Intestine Small	intestine
7	chr11:10578600-10585400	Weak transcription	Fetal Stomach	stomach
8	chr11:10579200-10581400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:10579400-10581200	Weak transcription	Adipose Nuclei	Adipose
10	chr11:10579800-10581600	Enhancers	Fetal Intestine Large	intestine
11	chr11:10580000-10580400	Enhancers	Liver	Liver
12	chr11:10580000-10580600	Enhancers	Small Intestine	intestine
13	chr11:10580000-10581400	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:10580000-10585800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:10580200-10584000	Strong transcription	Aorta	Aorta
16	chr11:10580400-10580600	Enhancers	Thymus	Thymus
17	chr11:10580400-10583600	Weak transcription	Lung	lung
18	chr11:10580400-10588000	Weak transcription	Liver	Liver
19	chr11:10580400-10590000	Weak transcription	Ovary	ovary
20	chr11:10580600-10581400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:10580600-10582600	Weak transcription	Small Intestine	intestine
22	chr11:10580600-10609800	Weak transcription	Thymus	Thymus
23	chr11:10581200-10581600	Strong transcription	Adipose Nuclei	Adipose
24	chr11:10581400-10581600	Enhancers	Fetal Intestine Small	intestine
25	chr11:10581400-10582200	Strong transcription	Primary B cells from cord blood	blood
26	chr11:10581400-10582600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:10581600-10582000	Weak transcription	Fetal Intestine Small	intestine
28	chr11:10581600-10582400	Weak transcription	Fetal Intestine Large	intestine
29	chr11:10581600-10583000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:10582000-10583200	Enhancers	Fetal Intestine Small	intestine

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