Variant report

Variant	nsv554780
Chromosome Location	chr11:54961350-55006534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2736 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:2736 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2217766	chr11:54961350-54961351	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566972096	chr11:54961353-54961354	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537738870	chr11:54961354-54961355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564680314	chr11:54961383-54961384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189146666	chr11:54961385-54961386	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577394974	chr11:54961387-54961388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78486059	chr11:54961413-54961414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78473912	chr11:54961431-54961432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545160133	chr11:54961442-54961443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75201026	chr11:54961446-54961447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376124707	chr11:54961451-54961452	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113946964	chr11:54961453-54961454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530530433	chr11:54961458-54961459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190887135	chr11:54961467-54961468	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572459575	chr11:54961471-54961472	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111761268	chr11:54961476-54961477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542756939	chr11:54961477-54961478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112692166	chr11:54961481-54961482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561261108	chr11:54961489-54961490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531776527	chr11:54961490-54961491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544109014	chr11:54961510-54961511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371128457	chr11:54961515-54961516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193129554	chr11:54961516-54961517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550457352	chr11:54961531-54961532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2164125	chr11:54961532-54961533	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201018073	chr11:54961546-54961547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529915048	chr11:54961547-54961548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370675315	chr11:54961559-54961560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113344796	chr11:54961564-54961565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112510146	chr11:54961580-54961581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374143225	chr11:54961582-54961583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546910092	chr11:54961590-54961591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2125899	chr11:54961623-54961624	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76487080	chr11:54961635-54961636	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs566906819	chr11:54961636-54961637	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs113828255	chr11:54961643-54961644	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs537474916	chr11:54961653-54961654	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs149091949	chr11:54961667-54961668	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs76863730	chr11:54961685-54961686	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs538562950	chr11:54961690-54961691	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs74447667	chr11:54961691-54961692	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs77755144	chr11:54961692-54961693	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs143148381	chr11:54961698-54961699	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs78270117	chr11:54961699-54961700	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs77474772	chr11:54961702-54961703	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs202230366	chr11:54961703-54961704	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs61894810	chr11:54961716-54961717	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs61894811	chr11:54961719-54961720	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs573941734	chr11:54961725-54961726	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs182983789	chr11:54961729-54961730	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	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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