Variant report

Variant	nsv915588
Chromosome Location	chr2:50235306-50268306
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	CEBPB	chr2:50241413-50241705	IMR90	lung:	n/a	chr2:50241549-50241560 chr2:50241528-50241539
2	CEBPB	chr2:50241390-50241721	Hela-S3	cervix:	n/a	chr2:50241549-50241560 chr2:50241528-50241539
3	CEBPB	chr2:50241438-50241669	H1-hESC	embryonic stem cell:	n/a	chr2:50241549-50241560 chr2:50241528-50241539
4	CEBPB	chr2:50241380-50241726	A549	lung:	n/a	chr2:50241549-50241560 chr2:50241528-50241539
5	CEBPB	chr2:50241365-50241718	HepG2	liver:	n/a	chr2:50241549-50241560 chr2:50241528-50241539
6	CEBPB	chr2:50241425-50241630	K562	blood:	n/a	chr2:50241549-50241560 chr2:50241528-50241539
7	CEBPB	chr2:50245918-50246489	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:50246112-50246386	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:50246112-50246411	HepG2	liver:	n/a	n/a
10	CHD2	chr2:50246157-50246357	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:50242303-50242412	LNCaP	prostate:	n/a	n/a
12	CTCF	chr2:50242328-50242373	LNCaP	prostate:	n/a	n/a
13	E2F4	chr2:50246109-50246340	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr2:50235995-50236054	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr2:50246059-50246447	Hela-S3	cervix:	n/a	chr2:50246254-50246268
16	EP300	chr2:50249956-50250058	GM12878	blood:	n/a	n/a
17	EP300	chr2:50266622-50266833	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr2:50266517-50267135	SK-N-SH	brain:	n/a	chr2:50266883-50266891
19	EP300	chr2:50266645-50266872	SK-N-SH_RA	brain:	n/a	n/a
20	FOS	chr2:50246060-50246463	MCF10A-Er-Src	breast:	n/a	chr2:50246199-50246211
21	FOS	chr2:50246004-50246475	MCF10A-Er-Src	breast:	n/a	chr2:50246199-50246211
22	FOS	chr2:50246040-50246476	MCF10A-Er-Src	breast:	n/a	chr2:50246199-50246211
23	FOS	chr2:50245946-50246474	MCF10A-Er-Src	breast:	n/a	chr2:50246199-50246211
24	GATA2	chr2:50266597-50266977	SH-SY5Y	brain:	n/a	chr2:50266825-50266842 chr2:50266829-50266850 chr2:50266836-50266843 chr2:50266831-50266847 chr2:50266834-50266843
25	GATA3	chr2:50266677-50267063	SH-SY5Y	brain:	n/a	chr2:50266825-50266842 chr2:50266829-50266850 chr2:50266836-50266843 chr2:50267013-50267025 chr2:50266831-50266847 chr2:50266834-50266843
26	JUN	chr2:50246109-50246397	HepG2	liver:	n/a	chr2:50246254-50246267 chr2:50246199-50246211 chr2:50246239-50246252
27	JUN	chr2:50246151-50246351	H1-hESC	embryonic stem cell:	n/a	chr2:50246254-50246267 chr2:50246199-50246211 chr2:50246239-50246252
28	JUN	chr2:50246107-50246425	Hela-S3	cervix:	n/a	chr2:50246254-50246267 chr2:50246199-50246211 chr2:50246239-50246252
29	JUN	chr2:50264659-50264798	K562	blood:	n/a	n/a
30	JUND	chr2:50244756-50244966	HepG2	liver:	n/a	chr2:50244859-50244866 chr2:50244858-50244867 chr2:50244857-50244868 chr2:50244859-50244867 chr2:50244859-50244868
31	JUND	chr2:50246095-50246413	HepG2	liver:	n/a	chr2:50246199-50246211
32	JUND	chr2:50246175-50246440	H1-hESC	embryonic stem cell:	n/a	chr2:50246199-50246211
33	JUND	chr2:50246092-50246407	Hela-S3	cervix:	n/a	chr2:50246199-50246211
34	KAP1	chr2:50245328-50246485	U2OS	brain:	n/a	n/a
35	MAFK	chr2:50262326-50262523	HepG2	liver:	n/a	chr2:50262375-50262386
36	MAX	chr2:50246105-50246368	Hela-S3	cervix:	n/a	chr2:50246256-50246265
37	MYC	chr2:50246073-50246360	MCF10A-Er-Src	breast:	n/a	chr2:50246256-50246265
38	MYC	chr2:50257366-50257501	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr2:50246075-50246353	MCF10A-Er-Src	breast:	n/a	chr2:50246256-50246265
40	POLR2A	chr2:50260562-50260728	ProgFib	skin:	n/a	n/a
41	POLR2A	chr2:50247797-50248119	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:50259009-50259209	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr2:50239299-50239527	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr2:50244110-50244570	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr2:50266455-50266521	ProgFib	skin:	n/a	n/a
46	POLR2A	chr2:50243528-50243692	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr2:50258639-50258688	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr2:50236956-50236997	MCF10A-Er-Src	breast:	n/a	n/a
49	PRDM1	chr2:50246077-50246320	Hela-S3	cervix:	n/a	chr2:50246206-50246221
50	RCOR1	chr2:50246132-50246333	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:49987705..49990073-chr2:50256678..50259583,2	K562	blood:
2	chr2:50245424..50247273-chr2:50250002..50252375,2	K562	blood:

Variant related genes	Relation type
NRXN1	TF binding region
ENSG00000179915	chromatin interactions

Extended variants
information (count: 1145 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10192677	chr2:50235329-50235330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553075504	chr2:50235345-50235346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181720084	chr2:50235387-50235388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557156665	chr2:50235426-50235427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529744262	chr2:50235430-50235431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141389851	chr2:50235451-50235452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6545143	chr2:50235454-50235455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs546512392	chr2:50235488-50235489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187294976	chr2:50235529-50235530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542039414	chr2:50235533-50235534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561815919	chr2:50235573-50235574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528136370	chr2:50235585-50235586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374714747	chr2:50235607-50235608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3046626	chr2:50235622-50235623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539851125	chr2:50235657-50235658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150828756	chr2:50235670-50235671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529020149	chr2:50235671-50235672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550673086	chr2:50235687-50235688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569106618	chr2:50235688-50235689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532971137	chr2:50235692-50235693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551698657	chr2:50235702-50235703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544538364	chr2:50235735-50235736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139945927	chr2:50235754-50235755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534049705	chr2:50235759-50235760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552961783	chr2:50235782-50235783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568088091	chr2:50235843-50235844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535583794	chr2:50235844-50235845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375239301	chr2:50235849-50235850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533373191	chr2:50235918-50235919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557021701	chr2:50235924-50235925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575837173	chr2:50235927-50235928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190887551	chr2:50235960-50235961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558286142	chr2:50235996-50235997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546769254	chr2:50236002-50236003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11891637	chr2:50236033-50236034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529449852	chr2:50236051-50236052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143927866	chr2:50236060-50236061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561694997	chr2:50236077-50236078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528878839	chr2:50236082-50236083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182331172	chr2:50236099-50236100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11887101	chr2:50236137-50236138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532994622	chr2:50236155-50236156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147294572	chr2:50236165-50236166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185124866	chr2:50236206-50236207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527614354	chr2:50236216-50236217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199645981	chr2:50236220-50236221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375307551	chr2:50236240-50236241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548845836	chr2:50236264-50236265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569130931	chr2:50236276-50236277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568152759	chr2:50236299-50236300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Bladder cancer	21909424	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
Breast cancer	21364760	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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50233000-50240000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:50234000-50237400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:50234200-50237400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:50234200-50237400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:50234200-50240000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:50234200-50245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:50237400-50237800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:50237400-50238000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:50237400-50238000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:50237800-50245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:50240000-50241200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:50241200-50245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:50242000-50242600	Enhancers	Fetal Heart	heart
14	chr2:50242200-50242600	Enhancers	Brain Angular Gyrus	brain
15	chr2:50242600-50245400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:50242600-50246000	Enhancers	Brain Germinal Matrix	brain
17	chr2:50242800-50245400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:50243800-50244000	Enhancers	Fetal Brain Female	brain
19	chr2:50244000-50246200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:50244200-50244600	Enhancers	Brain Substantia Nigra	brain
21	chr2:50244200-50245400	Weak transcription	Fetal Brain Female	brain
22	chr2:50244600-50245000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:50244600-50246600	Enhancers	Hela-S3	cervix
24	chr2:50245000-50246000	Enhancers	Brain Substantia Nigra	brain
25	chr2:50245400-50245600	Enhancers	Brain Angular Gyrus	brain
26	chr2:50245400-50246000	Enhancers	Brain Hippocampus Middle	brain
27	chr2:50245400-50246000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:50245400-50246000	Enhancers	Fetal Brain Female	brain
29	chr2:50245400-50246400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr2:50245600-50246000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:50245600-50246000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:50245600-50246400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:50245600-50246400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:50245800-50246200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:50250000-50250400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:50250000-50250800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:50250400-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:50250800-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:50252200-50253800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:50252200-50254800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:50252400-50252600	Enhancers	Fetal Heart	heart
42	chr2:50252600-50253600	Enhancers	Primary hematopoietic stem cells	blood
43	chr2:50253000-50253400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:50253200-50253400	Enhancers	Fetal Heart	heart
45	chr2:50253800-50256200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:50254800-50256600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:50256200-50257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:50256600-50256800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:50259200-50265200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:50263800-50264200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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