Variant report

Variant	nsv554693
Chromosome Location	chr11:54885449-54965277
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	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:

Extended variants
information (count: 5494 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:5494 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183694511	chr11:54888026-54888027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs552929361	chr11:54888048-54888049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs535671952	chr11:54888069-54888070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574953323	chr11:54888142-54888143	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535978655	chr11:54888167-54888168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs79606031	chr11:54888194-54888195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147981219	chr11:54888211-54888212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs182813132	chr11:54888230-54888231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190250659	chr11:54888232-54888233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565992007	chr11:54888239-54888240	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372730436	chr11:54888241-54888242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs193239003	chr11:54888244-54888245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113407558	chr11:54888273-54888274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs116564909	chr11:54888287-54888288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs540804631	chr11:54888304-54888305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533935375	chr11:54888315-54888316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112993520	chr11:54888317-54888318	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs576951861	chr11:54888321-54888322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs367634855	chr11:54888322-54888323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529712489	chr11:54888328-54888329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs138740683	chr11:54888356-54888357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563085436	chr11:54888372-54888373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111672622	chr11:54888396-54888397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111986091	chr11:54888401-54888402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs554163972	chr11:54888404-54888405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs559652322	chr11:54888407-54888408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551915692	chr11:54888413-54888414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570709984	chr11:54888422-54888423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs1916363	chr11:54888433-54888434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185670085	chr11:54888442-54888443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190198027	chr11:54888447-54888448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546746650	chr11:54888454-54888455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551753135	chr11:54888458-54888459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568267754	chr11:54888481-54888482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181625359	chr11:54888486-54888487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557479309	chr11:54888497-54888498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150765986	chr11:54888506-54888507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs539797789	chr11:54888519-54888520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139165003	chr11:54888522-54888523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185518752	chr11:54888526-54888527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4489764	chr11:54888530-54888531	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113253350	chr11:54888533-54888534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556403379	chr11:54888541-54888542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187140400	chr11:54888560-54888561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189950751	chr11:54888562-54888563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111891962	chr11:54888572-54888573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112464657	chr11:54888590-54888591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9704925	chr11:54888596-54888597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs563022799	chr11:54888598-54888599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557004082	chr11:54889200-54889201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

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

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