Variant report

Variant	nsv874096
Chromosome Location	chr2:52150034-52195672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:52185802-52185829	K562	blood:	n/a	n/a
2	CEBPB	chr2:52168493-52168547	A549	lung:	n/a	n/a
3	CEBPB	chr2:52170497-52170767	IMR90	lung:	n/a	chr2:52170622-52170633
4	CEBPB	chr2:52193973-52194288	IMR90	lung:	n/a	chr2:52194121-52194132
5	CEBPB	chr2:52194008-52194207	A549	lung:	n/a	chr2:52194121-52194132
6	CEBPB	chr2:52194035-52194142	H1-hESC	embryonic stem cell:	n/a	chr2:52194121-52194132
7	CEBPB	chr2:52179120-52179329	A549	lung:	n/a	n/a
8	CEBPB	chr2:52193961-52194229	Hela-S3	cervix:	n/a	chr2:52194121-52194132
9	CEBPB	chr2:52170578-52170756	HepG2	liver:	n/a	chr2:52170622-52170633
10	CEBPB	chr2:52181882-52182126	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:52193951-52194247	HepG2	liver:	n/a	chr2:52194121-52194132
12	CTCF	chr2:52192460-52192610	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr2:52183740-52183890	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr2:52192500-52192650	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr2:52192480-52192630	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr2:52192500-52192650	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr2:52183660-52183810	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr2:52181053-52181141	Lung_OC	lung:	n/a	n/a
19	CTCF	chr2:52175686-52175768	GM13976	blood:	n/a	n/a
20	CTCF	chr2:52185241-52185338	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr2:52183720-52183870	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr2:52192460-52192610	AG04449	skin:	n/a	n/a
23	CTCF	chr2:52185036-52185051	GM13976	blood:	n/a	n/a
24	CTCF	chr2:52192440-52192590	AG04449	skin:	n/a	n/a
25	CTCF	chr2:52159101-52159196	GM20000	blood:	n/a	n/a
26	CTCF	chr2:52192440-52192590	HAc	cerebellar:	n/a	n/a
27	CTCF	chr2:52161060-52161210	HepG2	liver:	n/a	n/a
28	CTCF	chr2:52192480-52192630	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr2:52183640-52183790	HCT-116	colon:	n/a	n/a
30	CTCF	chr2:52192500-52192650	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr2:52180869-52180959	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr2:52192560-52192710	BE2_C	brain:	n/a	n/a
33	CTCF	chr2:52192548-52192589	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr2:52185221-52185316	Medullo	brain:	n/a	n/a
35	CTCF	chr2:52183600-52183750	HCFaa	heart:	n/a	n/a
36	E2F4	chr2:52168670-52168756	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr2:52188116-52188400	MCF10A-Er-Src	breast:	n/a	n/a
38	FOSL2	chr2:52166014-52166283	HepG2	liver:	n/a	n/a
39	GATA3	chr2:52186706-52187284	SK-N-SH	brain:	n/a	n/a
40	GATA3	chr2:52181129-52181473	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr2:52186717-52187335	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr2:52181032-52181558	SK-N-SH	brain:	n/a	n/a
43	JUND	chr2:52181108-52181475	SK-N-SH	brain:	n/a	n/a
44	MAFF	chr2:52160900-52161087	HepG2	liver:	n/a	chr2:52160956-52160974
45	MAFF	chr2:52163408-52163659	HepG2	liver:	n/a	chr2:52163512-52163526 chr2:52163513-52163531
46	MAFK	chr2:52185824-52185827	HepG2	liver:	n/a	n/a
47	MAFK	chr2:52177070-52177247	HepG2	liver:	n/a	n/a
48	MAFK	chr2:52163387-52163683	IMR90	lung:	n/a	chr2:52163509-52163529 chr2:52163512-52163526 chr2:52163514-52163529 chr2:52163511-52163527
49	MAFK	chr2:52176489-52176500	HepG2	liver:	n/a	n/a
50	MAFK	chr2:52163377-52163688	HepG2	liver:	n/a	chr2:52163509-52163529 chr2:52163512-52163526 chr2:52163514-52163529 chr2:52163511-52163527

Variant related genes	Relation type
ENSG00000226366	TF binding region
ENSG00000230840	TF binding region

Extended variants
information (count: 1064 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1064 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11563076	chr2:52150034-52150035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528039752	chr2:52150055-52150056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77450058	chr2:52150059-52150060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566328250	chr2:52150087-52150088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114795714	chr2:52150088-52150089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376513865	chr2:52150105-52150106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35432302	chr2:52150120-52150121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532177237	chr2:52150199-52150200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184992641	chr2:52150208-52150209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537588981	chr2:52150322-52150323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189040711	chr2:52150344-52150345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571047896	chr2:52150360-52150361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200303102	chr2:52150366-52150367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570768015	chr2:52150407-52150408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534984873	chr2:52150409-52150410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs29001599	chr2:52150415-52150416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180943842	chr2:52150431-52150432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28966979	chr2:52150470-52150471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186077042	chr2:52150475-52150476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369720055	chr2:52150477-52150478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575089657	chr2:52150518-52150519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189313155	chr2:52150529-52150530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373618314	chr2:52150570-52150571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528089396	chr2:52150602-52150603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540195635	chr2:52150606-52150607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561504768	chr2:52150615-52150616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182019551	chr2:52150649-52150650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139629073	chr2:52150658-52150659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377594502	chr2:52150679-52150680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185815272	chr2:52150697-52150698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192002754	chr2:52150781-52150782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75769956	chr2:52150839-52150840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552408107	chr2:52150853-52150854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570899183	chr2:52150856-52150857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13013266	chr2:52150867-52150868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547009530	chr2:52150957-52150958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568108070	chr2:52150994-52150995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144282404	chr2:52151013-52151014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556788405	chr2:52151014-52151015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575104691	chr2:52151028-52151029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539212200	chr2:52151057-52151058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146620272	chr2:52151067-52151068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528148645	chr2:52151069-52151070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572921636	chr2:52151085-52151086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539934942	chr2:52151158-52151159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561771179	chr2:52151183-52151184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573633606	chr2:52151224-52151225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542550293	chr2:52151243-52151244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563937737	chr2:52151253-52151254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531152727	chr2:52151290-52151291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52147800-52151400	Weak transcription	Osteobl	bone
2	chr2:52151400-52151600	ZNF genes & repeats	Osteobl	bone
3	chr2:52166000-52166400	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr2:52170800-52171200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:52171200-52178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:52175400-52175600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:52175600-52176200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:52178200-52178400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:52178800-52179800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:52180600-52180800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:52180600-52182000	Enhancers	NHDF-Ad	bronchial
12	chr2:52180800-52181200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:52180800-52181600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:52180800-52182400	Enhancers	Osteobl	bone
15	chr2:52181200-52182200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:52181600-52182000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:52182000-52182200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:52182000-52186400	Weak transcription	NHDF-Ad	bronchial
19	chr2:52182200-52182600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:52182600-52186200	Weak transcription	Osteobl	bone
21	chr2:52186200-52188400	Enhancers	Osteobl	bone
22	chr2:52186400-52186600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:52186400-52188400	Enhancers	NHDF-Ad	bronchial
24	chr2:52186600-52187200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:52187200-52188400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:52187200-52188400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:52187400-52188200	Enhancers	NH-A	brain
28	chr2:52188000-52188400	Enhancers	HMEC	breast
29	chr2:52188400-52192200	Weak transcription	Osteobl	bone
30	chr2:52192200-52192600	Enhancers	Osteobl	bone
31	chr2:52192200-52192800	Enhancers	Pancreatic Islets	Pancreatic Islet

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