Variant report

Variant	nsv1045523
Chromosome Location	chr11:24188765-24236096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24202163..24204133-chr11:24208051..24210770,2	MCF-7	breast:
2	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:
3	chr11:24202163..24204133-chr11:24208051..24210770,2	MCF-7	breast:
4	chr11:24221833..24223887-chr11:24233684..24236438,2	K562	blood:

Extended variants
information (count: 540 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77551526	chr11:24188776-24188777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77016613	chr11:24188783-24188784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184220928	chr11:24188784-24188785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570615406	chr11:24188802-24188803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532921482	chr11:24188809-24188810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189592377	chr11:24188828-24188829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80333579	chr11:24188874-24188875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535369710	chr11:24188885-24188886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555673064	chr11:24188887-24188888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371383621	chr11:24188907-24188908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371152539	chr11:24188918-24188919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12276663	chr11:24188935-24188936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112191462	chr11:24188960-24188961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182058373	chr11:24188972-24188973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577825102	chr11:24189007-24189008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546394635	chr11:24189014-24189015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187657129	chr11:24189093-24189094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188743129	chr11:24189096-24189097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181571737	chr11:24189098-24189099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115816407	chr11:24189099-24189100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376882462	chr11:24189127-24189128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369447428	chr11:24189128-24189129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141256882	chr11:24189131-24189132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66828652	chr11:24189132-24189133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35097825	chr11:24189134-24189135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12789964	chr11:24189135-24189136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12789813	chr11:24189136-24189137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527634429	chr11:24189229-24189230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554386293	chr11:24189299-24189300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541036571	chr11:24189361-24189362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561285627	chr11:24203007-24203008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7107801	chr11:24203035-24203036	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528164467	chr11:24203041-24203042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113466898	chr11:24203056-24203057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144625096	chr11:24203058-24203059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11027752	chr11:24203072-24203073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12421837	chr11:24203101-24203102	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373745828	chr11:24203120-24203121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191718523	chr11:24203125-24203126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570038629	chr11:24203134-24203135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7123917	chr11:24203135-24203136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542371162	chr11:24203140-24203141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527453238	chr11:24203141-24203142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549095973	chr11:24203142-24203143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566109353	chr11:24203168-24203169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116060200	chr11:24203180-24203181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573028480	chr11:24203193-24203194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377615995	chr11:24203201-24203202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138527243	chr11:24203202-24203203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370410398	chr11:24203213-24203214	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24188600-24189400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:24203000-24203600	Enhancers	Dnd41	blood
3	chr11:24206200-24211800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:24211800-24213200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:24212400-24213600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr11:24216400-24216600	ZNF genes & repeats	Right Atrium	heart
7	chr11:24219800-24220400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:24220000-24220600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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