Variant report

Variant	nsv435922
Chromosome Location	chr11:16227682-16234455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16219560..16222671-chr11:16224548..16227962,3	K562	blood:
2	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:
3	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:
4	chr11:16226649..16230230-chr11:16231608..16235450,4	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531286992	chr11:16227697-16227698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549885505	chr11:16227698-16227699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568229084	chr11:16227717-16227718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368781398	chr11:16227731-16227732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115627882	chr11:16227732-16227733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369681321	chr11:16227735-16227736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554062369	chr11:16227838-16227839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552175420	chr11:16227856-16227857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191267261	chr11:16227865-16227866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34641020	chr11:16227887-16227888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558656416	chr11:16227904-16227905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577202918	chr11:16227915-16227916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35963544	chr11:16227945-16227946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537918248	chr11:16228028-16228029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142056137	chr11:16228052-16228053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561594892	chr11:16228101-16228102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10832557	chr11:16228137-16228138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs78382516	chr11:16228148-16228149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182981732	chr11:16228161-16228162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77944737	chr11:16228185-16228186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72867922	chr11:16228217-16228218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546506260	chr11:16228228-16228229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151155397	chr11:16228287-16228288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531355605	chr11:16228299-16228300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549583910	chr11:16228303-16228304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561770183	chr11:16228311-16228312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529060169	chr11:16228323-16228324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188022263	chr11:16228391-16228392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140378094	chr11:16228418-16228419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190718720	chr11:16228435-16228436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144167334	chr11:16228484-16228485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184161198	chr11:16228486-16228487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570681765	chr11:16228495-16228496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538239681	chr11:16228531-16228532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187772932	chr11:16228542-16228543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192207325	chr11:16228550-16228551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535597574	chr11:16228579-16228580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146477189	chr11:16228580-16228581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141033646	chr11:16228589-16228590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184373392	chr11:16228594-16228595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187179876	chr11:16228617-16228618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112204915	chr11:16228630-16228631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543416522	chr11:16228694-16228695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537851719	chr11:16228738-16228739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2168253	chr11:16228791-16228792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs193009956	chr11:16228857-16228858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78152447	chr11:16228870-16228871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533174211	chr11:16228876-16228877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551337216	chr11:16228877-16228878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138817680	chr11:16228887-16228888	Weak transcription	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
small cell lung cancer	20016488	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
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16224400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:16226000-16238400	Weak transcription	Psoas Muscle	Psoas
3	chr11:16231600-16231800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr11:16231800-16237000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:16231800-16240400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:16232800-16233200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:16233000-16233400	Enhancers	Fetal Heart	heart
8	chr11:16233000-16233600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:16233000-16233600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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