Variant report

Variant	nsv978992
Chromosome Location	chr2:34064570-34074865
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	chr2:34074263-34074579	A549	lung:	n/a	chr2:34074408-34074419
2	CEBPB	chr2:34074371-34074506	H1-hESC	embryonic stem cell:	n/a	chr2:34074408-34074419
3	CEBPB	chr2:34074255-34074588	HepG2	liver:	n/a	chr2:34074408-34074419
4	CEBPB	chr2:34073519-34074040	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:34074246-34074592	IMR90	lung:	n/a	chr2:34074408-34074419
6	CTCF	chr2:34067320-34067470	HFF	foreskin:	n/a	n/a
7	CTCF	chr2:34067220-34067370	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:34067260-34067410	HepG2	liver:	n/a	n/a
9	CTCF	chr2:34067340-34067490	GM12873	blood:	n/a	n/a
10	CTCF	chr2:34067300-34067450	MCF-7	breast:	n/a	n/a
11	CTCF	chr2:34067280-34067430	HEK293	kidney:	n/a	n/a
12	CTCF	chr2:34067380-34067530	A549	lung:	n/a	n/a
13	CTCF	chr2:34067260-34067410	BJ	skin:	n/a	n/a
14	CTCF	chr2:34065014-34065083	Lung_OC	lung:	n/a	n/a
15	CTCF	chr2:34067392-34067445	Gliobla	brain:	n/a	n/a
16	CTCF	chr2:34067331-34067447	GM12878	blood:	n/a	n/a
17	CTCF	chr2:34064988-34065081	MCF-7	breast:	n/a	n/a
18	FOS	chr2:34073457-34073943	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr2:34073528-34073909	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr2:34073484-34073959	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr2:34073523-34073895	MCF10A-Er-Src	breast:	n/a	n/a
22	HEY1	chr2:34065601-34065770	K562	blood:	n/a	n/a
23	HEY1	chr2:34065575-34065777	K562	blood:	n/a	n/a
24	MAFK	chr2:34064778-34064989	HepG2	liver:	n/a	n/a
25	MAFK	chr2:34064737-34064914	HepG2	liver:	n/a	n/a
26	MAFK	chr2:34067578-34067583	HepG2	liver:	n/a	n/a
27	MAFK	chr2:34073623-34073950	IMR90	lung:	n/a	n/a
28	MYC	chr2:34064997-34065034	MCF-7	breast:	n/a	n/a
29	MYC	chr2:34073575-34073884	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr2:34073317-34073849	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr2:34064949-34065098	MCF-7	breast:	n/a	n/a
32	POLR2A	chr2:34064920-34065121	A549	lung:	n/a	n/a
33	POLR2A	chr2:34065612-34065820	MCF-7	breast:	n/a	n/a
34	POLR2A	chr2:34070351-34070467	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:34073691-34073912	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:34065621-34065747	A549	lung:	n/a	n/a
37	POLR2A	chr2:34065604-34065720	ProgFib	skin:	n/a	n/a
38	POLR2A	chr2:34065652-34065711	A549	lung:	n/a	n/a
39	POLR2A	chr2:34065677-34065718	A549	lung:	n/a	n/a
40	POLR2A	chr2:34065606-34065744	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:34071183-34071255	ProgFib	skin:	n/a	n/a
42	POLR2A	chr2:34065636-34065727	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:34065683-34065713	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:34070343-34070495	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr2:34069871-34069962	MCF10A-Er-Src	breast:	n/a	n/a
46	RAD21	chr2:34067233-34067433	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr2:34070311-34070488	H1-hESC	embryonic stem cell:	n/a	n/a
48	SP1	chr2:34070260-34070656	HepG2	liver:	n/a	n/a
49	STAT3	chr2:34064621-34064754	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr2:34073645-34073771	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SLC25A5P2	TF binding region

Extended variants
information (count: 478 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546996732	chr2:34064821-34064822	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567187372	chr2:34064827-34064828	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs78439732	chr2:34064839-34064840	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181203869	chr2:34064863-34064864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113510688	chr2:34064881-34064882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs79200953	chr2:34064900-34064901	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs369387361	chr2:34064901-34064902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80225995	chr2:34064911-34064912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543084273	chr2:34064917-34064918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113554814	chr2:34064948-34064949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373682267	chr2:34064951-34064952	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs112152675	chr2:34064952-34064953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77036686	chr2:34064959-34064960	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114296479	chr2:34064969-34064970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs76541366	chr2:34064980-34064981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116567172	chr2:34064984-34064985	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs79564932	chr2:34065001-34065002	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs532111105	chr2:34065005-34065006	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547969955	chr2:34065007-34065008	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs202243559	chr2:34065026-34065027	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112829838	chr2:34065035-34065036	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576605402	chr2:34065043-34065044	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545587299	chr2:34065081-34065082	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186908721	chr2:34065088-34065089	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191796279	chr2:34065089-34065090	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs144184651	chr2:34065104-34065105	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183554498	chr2:34065119-34065120	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs529924059	chr2:34065136-34065137	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs186290214	chr2:34065137-34065138	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs563498421	chr2:34065138-34065139	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs532161854	chr2:34065178-34065179	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs552358869	chr2:34065179-34065180	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs571617299	chr2:34065188-34065189	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs182165511	chr2:34065601-34065602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539345347	chr2:34065608-34065609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55740293	chr2:34065620-34065621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113022981	chr2:34065632-34065633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200105026	chr2:34065640-34065641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558870835	chr2:34065655-34065656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572347339	chr2:34065659-34065660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62132021	chr2:34065661-34065662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534410745	chr2:34065684-34065685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554196541	chr2:34065690-34065691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574207513	chr2:34065714-34065715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113983308	chr2:34065731-34065732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77940407	chr2:34065735-34065736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79911351	chr2:34065741-34065742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543018879	chr2:34065745-34065746	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112227670	chr2:34065749-34065750	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs140374635	chr2:34065763-34065764	Enhancers	TF binding region	1 gene(s)	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34064800-34065200	Active TSS	Brain Substantia Nigra	brain
2	chr2:34065000-34065200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:34065600-34065800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:34065800-34072000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:34069600-34070000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:34070000-34072600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:34072600-34076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:34073000-34074600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:34073000-34074600	Enhancers	NHDF-Ad	bronchial
10	chr2:34073200-34074200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:34073200-34074400	Enhancers	NH-A	brain
12	chr2:34073400-34074200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:34073400-34074200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:34073400-34074200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:34074200-34075200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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