Variant report

Variant	esv3404717
Chromosome Location	chr11:16222726-16224324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16218926..16220596-chr11:16221268..16223735,2	K562	blood:
2	chr11:16223882..16226263-chr11:16229633..16231626,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193298390	chr11:16222733-16222734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573375999	chr11:16222736-16222737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546519197	chr11:16222756-16222757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565721464	chr11:16222823-16222824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566525635	chr11:16222883-16222884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141416498	chr11:16222885-16222886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140346677	chr11:16222917-16222918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11023870	chr11:16222942-16222943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185518148	chr11:16223068-16223069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537188593	chr11:16223114-16223115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370513510	chr11:16223182-16223183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555417220	chr11:16223245-16223246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573976334	chr11:16223246-16223247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374333446	chr11:16223390-16223391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187627465	chr11:16223425-16223426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535319270	chr11:16223444-16223445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541068643	chr11:16223469-16223470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553715527	chr11:16223473-16223474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577681074	chr11:16223475-16223476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527456860	chr11:16223481-16223482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150894696	chr11:16223522-16223523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575290428	chr11:16223584-16223585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76995728	chr11:16223664-16223665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542407061	chr11:16223743-16223744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560728546	chr11:16223745-16223746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138323959	chr11:16223785-16223786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72867919	chr11:16223814-16223815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575679543	chr11:16223828-16223829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1914875	chr11:16223830-16223831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533134751	chr11:16223834-16223835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371828425	chr11:16223838-16223839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545587163	chr11:16223859-16223860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149653238	chr11:16223900-16223901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569997412	chr11:16223981-16223982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531010996	chr11:16223984-16223985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549243155	chr11:16224020-16224021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567823065	chr11:16224044-16224045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs35714440	chr11:16224114-16224115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535251491	chr11:16224130-16224131	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs553658380	chr11:16224153-16224154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571981813	chr11:16224241-16224242	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147293736	chr11:16224250-16224251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556915777	chr11:16224282-16224283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Ependymoma	20639864	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16217600-16224600	Weak transcription	Fetal Heart	heart
2	chr11:16218200-16223400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:16218400-16225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:16224000-16224400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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