Variant report

Variant	nsv1046075
Chromosome Location	chr11:25088712-25123854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1838773	chr11:25088712-25088713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556504547	chr11:25088740-25088741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139378802	chr11:25088748-25088749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185024107	chr11:25088776-25088777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575311670	chr11:25088781-25088782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544336030	chr11:25088783-25088784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530465067	chr11:25088854-25088855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575007240	chr11:25088937-25088938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574789575	chr11:25088970-25088971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540627818	chr11:25088975-25088976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560147144	chr11:25088984-25088985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529694678	chr11:25089022-25089023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10767306	chr11:25089024-25089025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143338044	chr11:25089050-25089051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562702037	chr11:25089089-25089090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10767307	chr11:25089115-25089116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147525924	chr11:25089211-25089212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138299543	chr11:25089213-25089214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114141383	chr11:25089253-25089254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528672911	chr11:25089263-25089264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140984264	chr11:25089280-25089281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142005351	chr11:25089281-25089282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144814252	chr11:25089282-25089283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3992969	chr11:25089283-25089284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547381844	chr11:25089336-25089337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2197544	chr11:25089352-25089353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539345339	chr11:25089361-25089362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558711724	chr11:25089368-25089369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2197543	chr11:25089370-25089371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs118103816	chr11:25089371-25089372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554597046	chr11:25089385-25089386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574889149	chr11:25089399-25089400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189061710	chr11:25089424-25089425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181498916	chr11:25089455-25089456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561656903	chr11:25089532-25089533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557528707	chr11:25089543-25089544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141839194	chr11:25089578-25089579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371474232	chr11:25089653-25089654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186980775	chr11:25089704-25089705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562667243	chr11:25089719-25089720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531483988	chr11:25089720-25089721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117798428	chr11:25089766-25089767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2404022	chr11:25089780-25089781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527402568	chr11:25089799-25089800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529031007	chr11:25089801-25089802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550719402	chr11:25089819-25089820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547055491	chr11:25089825-25089826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2404023	chr11:25089859-25089860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114631602	chr11:25089895-25089896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552499387	chr11:25089896-25089897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25087000-25091200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:25088600-25090000	Weak transcription	NHEK	skin
3	chr11:25088600-25090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:25089800-25090600	Enhancers	HMEC	breast
5	chr11:25090000-25090600	Enhancers	NHEK	skin
6	chr11:25090200-25090600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:25115000-25115600	Enhancers	Liver	Liver
8	chr11:25115600-25115800	Flanking Active TSS	Liver	Liver
9	chr11:25115800-25116200	Enhancers	Liver	Liver

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