Variant report

Variant	nsv554729
Chromosome Location	chr11:54928487-54972854
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: 2951 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:2951 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567482493	chr11:54928511-54928512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs116753060	chr11:54928512-54928513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183578415	chr11:54928515-54928516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79290171	chr11:54928552-54928553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs546235123	chr11:54928609-54928610	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147189767	chr11:54928619-54928620	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553235076	chr11:54928630-54928631	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs113371533	chr11:54928658-54928659	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112786110	chr11:54928662-54928663	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201691904	chr11:54928681-54928682	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535394753	chr11:54928685-54928686	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550704804	chr11:54928686-54928687	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112298223	chr11:54928692-54928693	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532533966	chr11:54928699-54928700	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188267132	chr11:54928704-54928705	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2867250	chr11:54928705-54928706	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569243297	chr11:54928712-54928713	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199881810	chr11:54928724-54928725	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs150622082	chr11:54928736-54928737	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs140073189	chr11:54928745-54928746	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192486444	chr11:54928750-54928751	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555804090	chr11:54928765-54928766	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2117393	chr11:54928804-54928805	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs146068857	chr11:54928835-54928836	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111650214	chr11:54928842-54928843	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113670988	chr11:54928849-54928850	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs544598639	chr11:54928856-54928857	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111335311	chr11:54928857-54928858	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563062257	chr11:54928861-54928862	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs578097634	chr11:54928891-54928892	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568278257	chr11:54928900-54928901	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545610132	chr11:54928927-54928928	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534155625	chr11:54928933-54928934	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147717846	chr11:54928952-54928953	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs36104965	chr11:54928967-54928968	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112043636	chr11:54928980-54928981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528212784	chr11:54929004-54929005	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11825334	chr11:54929013-54929014	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561351293	chr11:54929015-54929016	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376966451	chr11:54929016-54929017	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191991694	chr11:54929019-54929020	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs183362191	chr11:54929041-54929042	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs184850641	chr11:54929060-54929061	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs200736021	chr11:54929065-54929066	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367544009	chr11:54929079-54929080	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569169902	chr11:54929082-54929083	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189836960	chr11:54929087-54929088	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551652831	chr11:54929097-54929098	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181969956	chr11:54929101-54929102	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11535778	chr11:54929124-54929125	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54915800-54929800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:54915800-54934800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:54927200-54929400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:54928600-54929600	Active TSS	Right Atrium	heart
5	chr11:54930600-54931000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr11:54933000-54934400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:54936200-54936400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr11:54940000-54941200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:54940000-54941800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr11:54941000-54943000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:54941400-54942200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr11:54941600-54942000	Active TSS	Aorta	Aorta
13	chr11:54942000-54944200	Weak transcription	Aorta	Aorta
14	chr11:54942600-54945000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr11:54943200-54945400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
16	chr11:54943400-54948200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
17	chr11:54944000-54944600	ZNF genes & repeats	Liver	Liver
18	chr11:54944200-54944400	Enhancers	Aorta	Aorta
19	chr11:54944200-54944400	ZNF genes & repeats	Colonic Mucosa	Colon
20	chr11:54944200-54944400	ZNF genes & repeats	Fetal Kidney	kidney
21	chr11:54944200-54944600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr11:54944200-54944600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:54944200-54944600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr11:54944200-54944600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
25	chr11:54944200-54944600	ZNF genes & repeats	Left Ventricle	heart
26	chr11:54944200-54944600	Active TSS	Ovary	ovary
27	chr11:54944200-54944600	Active TSS	Right Atrium	heart
28	chr11:54944200-54944800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr11:54944200-54944800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:54944200-54945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:54946600-54951200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:54948600-54950800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr11:54948800-54951400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr11:54950000-54950600	ZNF genes & repeats	Liver	Liver
35	chr11:54950200-54950800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:54950400-54950600	ZNF genes & repeats	Stomach Mucosa	stomach
37	chr11:54950400-54950800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr11:54950400-54950800	Active TSS	Ovary	ovary
39	chr11:54950400-54950800	Active TSS	Right Atrium	heart
40	chr11:54950400-54951000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:54950400-54951000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
42	chr11:54950800-54951800	Weak transcription	Right Atrium	heart
43	chr11:54950800-54965600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr11:54951000-54956200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:54953400-54963800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr11:54954400-54955200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr11:54956000-54965200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:54956200-54956400	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:54956600-54965200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr11:54956800-54957800	ZNF genes & repeats	Liver	Liver

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