Variant report

Variant	nsv554720
Chromosome Location	chr11:54891793-55026646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1363)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:54944326-54944655	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:55026236-55026614	HepG2	liver:	n/a	n/a
3	ATF1	chr11:54912080-54912450	K562	blood:	n/a	n/a
4	ATF1	chr11:55019501-55019863	K562	blood:	n/a	n/a
5	ATF1	chr11:54944286-54944657	K562	blood:	n/a	n/a
6	ATF1	chr11:54961546-54961918	K562	blood:	n/a	n/a
7	ATF1	chr11:55026235-55026613	K562	blood:	n/a	n/a
8	ATF1	chr11:55025562-55025910	K562	blood:	n/a	n/a
9	ATF1	chr11:54997083-54997606	K562	blood:	n/a	n/a
10	BACH1	chr11:54931923-54932027	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr11:55023515-55023741	K562	blood:	n/a	n/a
12	BACH1	chr11:54965393-54965420	K562	blood:	n/a	n/a
13	BACH1	chr11:54997720-54998094	K562	blood:	n/a	n/a
14	BATF	chr11:55015283-55015573	GM12878	blood:	n/a	n/a
15	BATF	chr11:55000059-55000268	GM12878	blood:	n/a	n/a
16	BATF	chr11:55000026-55000210	GM12878	blood:	n/a	n/a
17	BATF	chr11:54994433-54994731	GM12878	blood:	n/a	n/a
18	BATF	chr11:55026006-55026557	GM12878	blood:	n/a	n/a
19	BATF	chr11:54993469-54993708	GM12878	blood:	n/a	n/a
20	BATF	chr11:55014461-55014721	GM12878	blood:	n/a	n/a
21	BATF	chr11:54993502-54993709	GM12878	blood:	n/a	n/a
22	BATF	chr11:55015341-55015571	GM12878	blood:	n/a	n/a
23	BATF	chr11:55017098-55017251	GM12878	blood:	n/a	n/a
24	BATF	chr11:54923047-54923213	GM12878	blood:	n/a	n/a
25	BATF	chr11:55025599-55025897	GM12878	blood:	n/a	n/a
26	BATF	chr11:55024818-55025202	GM12878	blood:	n/a	n/a
27	BATF	chr11:54941694-54941923	GM12878	blood:	n/a	n/a
28	BATF	chr11:54995653-54995836	GM12878	blood:	n/a	n/a
29	BATF	chr11:55024927-55025127	GM12878	blood:	n/a	n/a
30	BATF	chr11:55026320-55026550	GM12878	blood:	n/a	n/a
31	BATF	chr11:55008045-55008551	GM12878	blood:	n/a	n/a
32	BATF	chr11:55016579-55016914	GM12878	blood:	n/a	n/a
33	BATF	chr11:54990182-54990428	GM12878	blood:	n/a	n/a
34	BATF	chr11:54975053-54975273	GM12878	blood:	n/a	n/a
35	BATF	chr11:55016992-55017300	GM12878	blood:	n/a	n/a
36	BATF	chr11:54995261-54995543	GM12878	blood:	n/a	n/a
37	BATF	chr11:54995652-54995903	GM12878	blood:	n/a	n/a
38	BATF	chr11:55022914-55023156	GM12878	blood:	n/a	n/a
39	BCL11A	chr11:54990163-54990439	GM12878	blood:	n/a	n/a
40	BCL11A	chr11:55000051-55000252	GM12878	blood:	n/a	n/a
41	BCL11A	chr11:55017059-55017314	GM12878	blood:	n/a	n/a
42	BCL11A	chr11:55025512-55025873	GM12878	blood:	n/a	n/a
43	BCL11A	chr11:55000041-55000203	GM12878	blood:	n/a	n/a
44	BCL11A	chr11:55025607-55025773	GM12878	blood:	n/a	n/a
45	BCL11A	chr11:55015335-55015565	GM12878	blood:	n/a	n/a
46	BCL11A	chr11:55024915-55025213	GM12878	blood:	n/a	n/a
47	BCL11A	chr11:55015258-55015698	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:54993493-54993698	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:55021527-55021954	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:54993439-54993711	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121484468..121485418-chr11:54954643..54955164,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM48	TF binding region

Extended variants
information (count: 10302 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:10302 , 50 per page) page: 1 2 3 4 5 6 7 ... 207

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190613801	chr11:54891817-54891818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530730528	chr11:54891822-54891823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs77171697	chr11:54891834-54891835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs552301690	chr11:54891837-54891838	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs570562681	chr11:54891843-54891844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149076139	chr11:54891850-54891851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553499715	chr11:54891855-54891856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs74337975	chr11:54891856-54891857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568594432	chr11:54891857-54891858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs80109309	chr11:54891863-54891864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs182520554	chr11:54891865-54891866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs188012522	chr11:54891869-54891870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs35710074	chr11:54891872-54891873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376831649	chr11:54891873-54891874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs530823991	chr11:54891883-54891884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575869787	chr11:54891918-54891919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs546185507	chr11:54891923-54891924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113441981	chr11:54891939-54891940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539968725	chr11:54891944-54891945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76865732	chr11:54891955-54891956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190844863	chr11:54891960-54891961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113558165	chr11:54891961-54891962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534912555	chr11:54891965-54891966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs77212989	chr11:54891972-54891973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111719810	chr11:54891975-54891976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74219879	chr11:54891977-54891978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs111252963	chr11:54891988-54891989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs188906049	chr11:54891991-54891992	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559002514	chr11:54891998-54891999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113720179	chr11:54891999-54892000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs192462801	chr11:54892001-54892002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs113471691	chr11:54892006-54892007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs550418926	chr11:54892009-54892010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs372411443	chr11:54892010-54892011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs538330401	chr11:54892011-54892012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541775810	chr11:54892018-54892019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113857735	chr11:54892021-54892022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs113284064	chr11:54892033-54892034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs111637617	chr11:54892040-54892041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370397040	chr11:54892041-54892042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs563141155	chr11:54892055-54892056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200277847	chr11:54892058-54892059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374262661	chr11:54892064-54892065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs79526402	chr11:54892077-54892078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530791710	chr11:54892078-54892079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112636657	chr11:54892082-54892083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552177473	chr11:54892092-54892093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76133438	chr11:54892097-54892098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs185014038	chr11:54892103-54892104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570806161	chr11:54892105-54892106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54890600-54891800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:54890600-54896200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:54892200-54892400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr11:54892600-54893000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr11:54907600-54919200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:54910000-54911000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:54911600-54913000	ZNF genes & repeats	Psoas Muscle	Psoas
8	chr11:54911800-54912000	Active TSS	NH-A	brain
9	chr11:54912000-54912200	ZNF genes & repeats	HSMMtube	muscle
10	chr11:54912000-54912200	Bivalent/Poised TSS	NH-A	brain
11	chr11:54915200-54916800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr11:54915800-54929800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr11:54915800-54934800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr11:54923400-54926600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr11:54924800-54925200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr11:54924800-54925400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:54925000-54925200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr11:54927200-54929400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:54928600-54929600	Active TSS	Right Atrium	heart
20	chr11:54930600-54931000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr11:54933000-54934400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:54936200-54936400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr11:54940000-54941200	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr11:54940000-54941800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr11:54941000-54943000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:54941400-54942200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr11:54941600-54942000	Active TSS	Aorta	Aorta
28	chr11:54942000-54944200	Weak transcription	Aorta	Aorta
29	chr11:54942600-54945000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr11:54943200-54945400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr11:54943400-54948200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr11:54944000-54944600	ZNF genes & repeats	Liver	Liver
33	chr11:54944200-54944400	Enhancers	Aorta	Aorta
34	chr11:54944200-54944400	ZNF genes & repeats	Colonic Mucosa	Colon
35	chr11:54944200-54944400	ZNF genes & repeats	Fetal Kidney	kidney
36	chr11:54944200-54944600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr11:54944200-54944600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:54944200-54944600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
39	chr11:54944200-54944600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
40	chr11:54944200-54944600	ZNF genes & repeats	Left Ventricle	heart
41	chr11:54944200-54944600	Active TSS	Ovary	ovary
42	chr11:54944200-54944600	Active TSS	Right Atrium	heart
43	chr11:54944200-54944800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
44	chr11:54944200-54944800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:54944200-54945600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:54946600-54951200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:54948600-54950800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr11:54948800-54951400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr11:54950000-54950600	ZNF genes & repeats	Liver	Liver
50	chr11:54950200-54950800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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