Variant report

Variant	nsv554672
Chromosome Location	chr11:54883902-54891325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 361 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553169675	chr11:54883916-54883917	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs186983015	chr11:54883928-54883929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190969032	chr11:54883929-54883930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527343299	chr11:54883950-54883951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113082296	chr11:54883965-54883966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs61898152	chr11:54883976-54883977	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs564765035	chr11:54883977-54883978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551064532	chr11:54884009-54884010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528809619	chr11:54884021-54884022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs546863333	chr11:54884027-54884028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs568651445	chr11:54884031-54884032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs529723114	chr11:54884041-54884042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs548268984	chr11:54884045-54884046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs182757026	chr11:54884053-54884054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536648060	chr11:54884054-54884055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151223271	chr11:54884111-54884112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570400593	chr11:54884128-54884129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs140425022	chr11:54884133-54884134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs149987661	chr11:54884151-54884152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192150851	chr11:54884196-54884197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185813158	chr11:54884206-54884207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs372626754	chr11:54884210-54884211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145232633	chr11:54884213-54884214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs530278645	chr11:54884224-54884225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569747633	chr11:54884234-54884235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575852713	chr11:54884239-54884240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200670247	chr11:54884251-54884252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190615913	chr11:54884252-54884253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182999256	chr11:54884261-54884262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs188437496	chr11:54884262-54884263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs181809798	chr11:54884264-54884265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564503444	chr11:54884283-54884284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs112874135	chr11:54884299-54884300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547258889	chr11:54884304-54884305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115092105	chr11:54884316-54884317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs80134922	chr11:54884322-54884323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562093892	chr11:54884326-54884327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529498251	chr11:54884345-54884346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs78466400	chr11:54884391-54884392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs192172624	chr11:54884438-54884439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182863143	chr11:54884457-54884458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111531430	chr11:54884461-54884462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113596152	chr11:54884465-54884466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570135789	chr11:54884467-54884468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538992067	chr11:54884472-54884473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534570311	chr11:54884475-54884476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs546885314	chr11:54884487-54884488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs201528017	chr11:54884493-54884494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568306189	chr11:54884494-54884495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs535637270	chr11:54884510-54884511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54881400-54884400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr11:54881600-54885400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:54882800-54884400	ZNF genes & repeats	Liver	Liver
4	chr11:54888000-54888600	ZNF genes & repeats	Liver	Liver
5	chr11:54889200-54890400	Weak transcription	Stomach Mucosa	stomach
6	chr11:54890400-54891000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr11:54890400-54891000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr11:54890600-54890800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:54890600-54890800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
10	chr11:54890600-54890800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr11:54890600-54890800	Active TSS	Ovary	ovary
12	chr11:54890600-54891000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr11:54890600-54891000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:54890600-54891000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:54890600-54891000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:54890600-54891000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:54890600-54891000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr11:54890600-54891000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr11:54890600-54891000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr11:54890600-54891000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:54890600-54891000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:54890600-54891000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr11:54890600-54891000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr11:54890600-54891000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
27	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
29	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
31	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:54890600-54891000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr11:54890600-54891000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
34	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:54890600-54891000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:54890600-54891000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
37	chr11:54890600-54891000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:54890600-54891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:54890600-54891000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr11:54890600-54891000	Active TSS	Aorta	Aorta
41	chr11:54890600-54891000	ZNF genes & repeats	Liver	Liver
42	chr11:54890600-54891000	ZNF genes & repeats	Brain Angular Gyrus	brain
43	chr11:54890600-54891000	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr11:54890600-54891000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr11:54890600-54891000	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr11:54890600-54891000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
47	chr11:54890600-54891000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:54890600-54891000	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr11:54890600-54891000	ZNF genes & repeats	Colonic Mucosa	Colon
50	chr11:54890600-54891000	ZNF genes & repeats	Colon Smooth Muscle	Colon

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