Variant report

Variant	nsv554747
Chromosome Location	chr11:54954916-54982407
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: 1480 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:1480 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12099229	chr11:54954916-54954917	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548026875	chr11:54954919-54954920	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141724180	chr11:54954925-54954926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542681974	chr11:54954991-54954992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185138417	chr11:54954992-54954993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530434768	chr11:54955006-54955007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150571954	chr11:54955025-54955026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117046881	chr11:54955041-54955042	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374925211	chr11:54955043-54955044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556354012	chr11:54955058-54955059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534946441	chr11:54955106-54955107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80288147	chr11:54955107-54955108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190998656	chr11:54955165-54955166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371285410	chr11:54955177-54955178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535944422	chr11:54955182-54955183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557181884	chr11:54955184-54955185	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11824344	chr11:54955198-54955199	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539468477	chr11:54955208-54955209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557755638	chr11:54955222-54955223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573183913	chr11:54955225-54955226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376081252	chr11:54955231-54955232	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2571200	chr11:54955235-54955236	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113390532	chr11:54955251-54955252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561941515	chr11:54955264-54955265	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61897323	chr11:54955299-54955300	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs541869914	chr11:54955313-54955314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144566562	chr11:54955326-54955327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147446475	chr11:54955339-54955340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2571199	chr11:54955364-54955365	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs71457908	chr11:54955382-54955383	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564107112	chr11:54955383-54955384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144638032	chr11:54955389-54955390	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528388716	chr11:54955391-54955392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143657901	chr11:54955407-54955408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79393639	chr11:54955410-54955411	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76366747	chr11:54955412-54955413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373292343	chr11:54955416-54955417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2571198	chr11:54955423-54955424	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143721895	chr11:54955425-54955426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144229925	chr11:54955431-54955432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75671264	chr11:54955438-54955439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141932960	chr11:54955439-54955440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148124889	chr11:54955446-54955447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77618078	chr11:54955454-54955455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78211106	chr11:54955461-54955462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568204350	chr11:54955475-54955476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201868207	chr11:54955477-54955478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144332398	chr11:54955483-54955484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56405999	chr11:54955486-54955487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368675844	chr11:54955488-54955489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr11:54951000-54956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:54954400-54955200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:54956200-54956400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr11:54956800-54957800	ZNF genes & repeats	Liver	Liver
9	chr11:54958000-54959000	Active TSS	Right Atrium	heart
10	chr11:54960800-54961600	Weak transcription	NH-A	brain
11	chr11:54961400-54962000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr11:54961400-54962000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr11:54961400-54962000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr11:54961600-54961800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:54961600-54961800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:54961600-54961800	ZNF genes & repeats	Gastric	stomach
18	chr11:54961600-54961800	Flanking Bivalent TSS/Enh	Hela-S3	cervix
19	chr11:54961600-54961800	ZNF genes & repeats	HMEC	breast
20	chr11:54961600-54961800	ZNF genes & repeats	NHLF	lung
21	chr11:54961600-54962000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:54961600-54962000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:54961600-54962000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:54961600-54962000	Active TSS	Aorta	Aorta
25	chr11:54961600-54962000	Active TSS	Fetal Heart	heart
26	chr11:54961600-54962000	ZNF genes & repeats	Left Ventricle	heart
27	chr11:54961600-54962000	Active TSS	A549	lung
28	chr11:54961600-54962000	Active TSS	HSMMtube	muscle
29	chr11:54961600-54962000	ZNF genes & repeats	HUVEC	blood vessel
30	chr11:54961600-54962000	ZNF genes & repeats	K562	blood
31	chr11:54961600-54962000	ZNF genes & repeats	NH-A	brain
32	chr11:54961600-54962000	ZNF genes & repeats	Osteobl	bone
33	chr11:54961600-54962200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr11:54961600-54962200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr11:54961800-54962000	ZNF genes & repeats	Dnd41	blood
36	chr11:54961800-54962000	Bivalent Enhancer	Hela-S3	cervix
37	chr11:54962000-54963400	Weak transcription	HUVEC	blood vessel
38	chr11:54962000-54963600	Weak transcription	NH-A	brain
39	chr11:54963400-54963800	ZNF genes & repeats	HUVEC	blood vessel
40	chr11:54963600-54963800	Active TSS	NH-A	brain
41	chr11:54970200-54973600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr11:54971600-54972600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
43	chr11:54972000-54972200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr11:54972000-54972200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:54972000-54972200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
46	chr11:54972000-54972200	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr11:54972000-54972200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr11:54972000-54972200	ZNF genes & repeats	Brain Substantia Nigra	brain
49	chr11:54972000-54972200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr11:54972000-54972200	ZNF genes & repeats	Fetal Lung	lung

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