Variant report

Variant	nsv524602
Chromosome Location	chr2:34061344-34066757
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	chr2:34063261-34063570	HepG2	liver:	n/a	chr2:34063436-34063447
2	CEBPB	chr2:34062049-34062067	A549	lung:	n/a	n/a
3	CEBPB	chr2:34062064-34062078	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:34063300-34063564	IMR90	lung:	n/a	chr2:34063436-34063447
5	CTCF	chr2:34064988-34065081	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:34065014-34065083	Lung_OC	lung:	n/a	n/a
7	CTCF	chr2:34063595-34063608	GM13976	blood:	n/a	n/a
8	HEY1	chr2:34065575-34065777	K562	blood:	n/a	n/a
9	HEY1	chr2:34065601-34065770	K562	blood:	n/a	n/a
10	MAFK	chr2:34061352-34061570	HepG2	liver:	n/a	n/a
11	MAFK	chr2:34064778-34064989	HepG2	liver:	n/a	n/a
12	MAFK	chr2:34064737-34064914	HepG2	liver:	n/a	n/a
13	MAFK	chr2:34061380-34061579	HepG2	liver:	n/a	n/a
14	MYC	chr2:34064997-34065034	MCF-7	breast:	n/a	n/a
15	MYC	chr2:34064949-34065098	MCF-7	breast:	n/a	n/a
16	POLR2A	chr2:34064920-34065121	A549	lung:	n/a	n/a
17	POLR2A	chr2:34065604-34065720	ProgFib	skin:	n/a	n/a
18	POLR2A	chr2:34065677-34065718	A549	lung:	n/a	n/a
19	POLR2A	chr2:34065606-34065744	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:34065683-34065713	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:34065636-34065727	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:34065652-34065711	A549	lung:	n/a	n/a
23	POLR2A	chr2:34065621-34065747	A549	lung:	n/a	n/a
24	POLR2A	chr2:34065612-34065820	MCF-7	breast:	n/a	n/a
25	STAT3	chr2:34061849-34061927	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr2:34064621-34064754	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLC25A5P2	TF binding region

Extended variants
information (count: 142 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11695787	chr2:34061344-34061345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10198829	chr2:34061367-34061368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530199635	chr2:34061375-34061376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550336390	chr2:34061415-34061416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185290845	chr2:34061417-34061418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374939132	chr2:34061440-34061441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72864620	chr2:34061444-34061445	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191925676	chr2:34061505-34061506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs72864623	chr2:34061507-34061508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566210899	chr2:34061547-34061548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535351723	chr2:34061550-34061551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556058116	chr2:34061589-34061590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554721673	chr2:34061598-34061599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574725481	chr2:34061621-34061622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183290688	chr2:34061675-34061676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189132195	chr2:34061685-34061686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144897640	chr2:34061688-34061689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577746420	chr2:34061721-34061722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576880530	chr2:34061738-34061739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545447499	chr2:34061741-34061742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559321253	chr2:34061742-34061743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573030545	chr2:34061773-34061774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs884874	chr2:34061790-34061791	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561853278	chr2:34061799-34061800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546996732	chr2:34064821-34064822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567187372	chr2:34064827-34064828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs78439732	chr2:34064839-34064840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181203869	chr2:34064863-34064864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113510688	chr2:34064881-34064882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79200953	chr2:34064900-34064901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369387361	chr2:34064901-34064902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs80225995	chr2:34064911-34064912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543084273	chr2:34064917-34064918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs113554814	chr2:34064948-34064949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373682267	chr2:34064951-34064952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112152675	chr2:34064952-34064953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77036686	chr2:34064959-34064960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114296479	chr2:34064969-34064970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76541366	chr2:34064980-34064981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs116567172	chr2:34064984-34064985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79564932	chr2:34065001-34065002	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532111105	chr2:34065005-34065006	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547969955	chr2:34065007-34065008	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs202243559	chr2:34065026-34065027	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs112829838	chr2:34065035-34065036	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576605402	chr2:34065043-34065044	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545587299	chr2:34065081-34065082	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186908721	chr2:34065088-34065089	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs191796279	chr2:34065089-34065090	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs144184651	chr2:34065104-34065105	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34061000-34061800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:34064800-34065200	Active TSS	Brain Substantia Nigra	brain
3	chr2:34065000-34065200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:34065600-34065800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:34065800-34072000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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