Variant report

Variant	nsv554771
Chromosome Location	chr11:54959599-55006534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2886 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2886 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2571194	chr11:54959599-54959600	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549081760	chr11:54959600-54959601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs550704249	chr11:54959609-54959610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113258592	chr11:54959612-54959613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs367796586	chr11:54959624-54959625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs201369107	chr11:54959631-54959632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199631574	chr11:54959644-54959645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs566082835	chr11:54959646-54959647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185910696	chr11:54959647-54959648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201517890	chr11:54959659-54959660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535110259	chr11:54959664-54959665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185969406	chr11:54959675-54959676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111854019	chr11:54959700-54959701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199531813	chr11:54959701-54959702	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557753393	chr11:54959714-54959715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs567018983	chr11:54959719-54959720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs28819497	chr11:54959740-54959741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111422754	chr11:54959750-54959751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371281164	chr11:54959757-54959758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534518508	chr11:54959764-54959765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201762809	chr11:54959800-54959801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112464228	chr11:54959803-54959804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141269118	chr11:54959848-54959849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113230849	chr11:54959856-54959857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113889310	chr11:54959861-54959862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200615290	chr11:54959870-54959871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200984677	chr11:54959876-54959877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115548592	chr11:54959893-54959894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs115388452	chr11:54959894-54959895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557126467	chr11:54959898-54959899	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs113898150	chr11:54959910-54959911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190077190	chr11:54959914-54959915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs146982405	chr11:54959917-54959918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs112071883	chr11:54959928-54959929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545785424	chr11:54959932-54959933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs113468863	chr11:54959939-54959940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200889852	chr11:54959966-54959967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112381853	chr11:54959967-54959968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113164549	chr11:54959981-54959982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112118055	chr11:54959987-54959988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs112255022	chr11:54960025-54960026	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79115492	chr11:54960039-54960040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs182708715	chr11:54960041-54960042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540569627	chr11:54960086-54960087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561727711	chr11:54960100-54960101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113854817	chr11:54960104-54960105	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs550640909	chr11:54960111-54960112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79065420	chr11:54960116-54960117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562615218	chr11:54960120-54960121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184903696	chr11:54960121-54960122	ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr11:54960800-54961600	Weak transcription	NH-A	brain
6	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
7	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
13	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
14	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
15	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung
16	chr11:54961600-54962000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:54961600-54962000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:54961600-54962000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:54961600-54962000	Active TSS	Aorta	Aorta
20	chr11:54961600-54962000	Active TSS	Fetal Heart	heart
21	chr11:54961600-54962000	ZNF genes & repeats	Left Ventricle	heart
22	chr11:54961600-54962000	Active TSS	A549	lung
23	chr11:54961600-54962000	Active TSS	HSMMtube	muscle
24	chr11:54961600-54962000	ZNF genes & repeats	HUVEC	blood vessel
25	chr11:54961600-54962000	ZNF genes & repeats	K562	blood
26	chr11:54961600-54962000	ZNF genes & repeats	NH-A	brain
27	chr11:54961600-54962000	ZNF genes & repeats	Osteobl	bone
28	chr11:54961600-54962200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr11:54961600-54962200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr11:54961800-54962000	ZNF genes & repeats	Dnd41	blood
31	chr11:54961800-54962000	Bivalent Enhancer	Hela-S3	cervix
32	chr11:54962000-54963400	Weak transcription	HUVEC	blood vessel
33	chr11:54962000-54963600	Weak transcription	NH-A	brain
34	chr11:54963400-54963800	ZNF genes & repeats	HUVEC	blood vessel
35	chr11:54963600-54963800	Active TSS	NH-A	brain
36	chr11:54970200-54973600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr11:54971600-54972600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr11:54972000-54972200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr11:54972000-54972200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:54972000-54972200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr11:54972000-54972200	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr11:54972000-54972200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
43	chr11:54972000-54972200	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr11:54972000-54972200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr11:54972000-54972200	ZNF genes & repeats	Fetal Lung	lung
46	chr11:54972000-54974000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:54979000-54980000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr11:54979000-54987400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
49	chr11:54979200-54979800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr11:54979200-54980600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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