Variant report

Variant	nsv982992
Chromosome Location	chr11:18686672-18687672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565670202	chr11:18686678-18686679	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187783370	chr11:18686700-18686701	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551008769	chr11:18686710-18686711	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148269293	chr11:18686750-18686751	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191084361	chr11:18686765-18686766	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555460717	chr11:18686787-18686788	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573634722	chr11:18686793-18686794	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554637010	chr11:18686822-18686823	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141276091	chr11:18686848-18686849	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554399744	chr11:18686895-18686896	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572825696	chr11:18686899-18686900	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546525711	chr11:18686905-18686906	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564586135	chr11:18686906-18686907	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9705036	chr11:18686916-18686917	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534020316	chr11:18686928-18686929	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562236967	chr11:18686940-18686941	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529351163	chr11:18686945-18686946	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11552548	chr11:18686966-18686967	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547228933	chr11:18686984-18686985	Enhancers Active TSS Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569804311	chr11:18687016-18687017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532915191	chr11:18687017-18687018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12787397	chr11:18687025-18687026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182546915	chr11:18687043-18687044	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs372389593	chr11:18687044-18687045	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs537078270	chr11:18687050-18687051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs374830104	chr11:18687075-18687076	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs56028925	chr11:18687084-18687085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548686919	chr11:18687206-18687207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567395667	chr11:18687210-18687211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534706833	chr11:18687225-18687226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188009947	chr11:18687247-18687248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374084697	chr11:18687266-18687267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192643545	chr11:18687268-18687269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35044436	chr11:18687305-18687306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184974193	chr11:18687367-18687368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35358073	chr11:18687413-18687414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546351819	chr11:18687416-18687417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397775827	chr11:18687425-18687426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544766525	chr11:18687453-18687454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558444894	chr11:18687512-18687513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187405181	chr11:18687559-18687560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368147303	chr11:18687627-18687628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18686400-18687000	Strong transcription	Ovary	ovary
2	chr11:18686400-18687200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
3	chr11:18686600-18686800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:18686600-18687000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:18686600-18687000	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr11:18686600-18687200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:18686600-18687600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:18686600-18687800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:18686600-18687800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr11:18686800-18687000	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr11:18686800-18687200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:18687000-18687200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:18687000-18687200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:18687000-18687400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:18687000-18687600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:18687000-18690000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:18687000-18719800	Weak transcription	Ovary	ovary
18	chr11:18687200-18687600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:18687200-18688000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:18687200-18688200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr11:18687200-18690800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:18687400-18690800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:18687600-18687800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:18687600-18689800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:18687600-18690800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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