Variant report

Variant	nsv1003966
Chromosome Location	chr2:35431703-35470856
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	chr2:35445796-35446016	A549	lung:	n/a	n/a
2	CEBPB	chr2:35445293-35445486	HepG2	liver:	n/a	chr2:35445377-35445388
3	CEBPB	chr2:35445413-35446047	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr2:35451298-35451471	HepG2	liver:	n/a	chr2:35451382-35451393
5	CEBPB	chr2:35443522-35443545	HepG2	liver:	n/a	n/a
6	CHD2	chr2:35453824-35453831	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:35440440-35440590	AG09309	skin:	n/a	n/a
8	E2F4	chr2:35448451-35448651	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:35445533-35445832	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr2:35445454-35445825	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:35445501-35445871	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:35445519-35445838	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr2:35445474-35445791	MCF-7	breast:	n/a	n/a
14	FOXA1	chr2:35436494-35436691	T-47D	breast:	n/a	n/a
15	GATA3	chr2:35447238-35447601	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr2:35445308-35445406	HepG2	liver:	n/a	chr2:35445378-35445391
17	JUND	chr2:35453733-35453981	H1-hESC	embryonic stem cell:	n/a	chr2:35453847-35453855
18	JUND	chr2:35453671-35454067	H1-hESC	embryonic stem cell:	n/a	chr2:35453847-35453855
19	JUND	chr2:35445263-35445803	HepG2	liver:	n/a	n/a
20	JUND	chr2:35431398-35431758	HepG2	liver:	n/a	n/a
21	MAFF	chr2:35455634-35455709	K562	blood:	n/a	n/a
22	MAFF	chr2:35449054-35449298	HepG2	liver:	n/a	n/a
23	MAFK	chr2:35448962-35449235	HepG2	liver:	n/a	chr2:35449123-35449139
24	MAFK	chr2:35457682-35457789	HepG2	liver:	n/a	chr2:35457712-35457727
25	MAFK	chr2:35448215-35448406	HepG2	liver:	n/a	chr2:35448325-35448336 chr2:35448294-35448305 chr2:35448295-35448306 chr2:35448290-35448306 chr2:35448293-35448307 chr2:35448295-35448306 chr2:35448294-35448305
26	POLR2A	chr2:35468937-35469062	ProgFib	skin:	n/a	n/a
27	POLR2A	chr2:35443181-35443225	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:35431738-35431803	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr2:35445451-35445818	U87	brain:	n/a	n/a
30	POLR2A	chr2:35434246-35434302	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr2:35445451-35445843	U87	brain:	n/a	n/a
32	POLR2A	chr2:35465647-35465724	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:35445466-35445982	U87	brain:	n/a	n/a
34	POLR2A	chr2:35434746-35434793	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr2:35452099-35452299	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:35470650-35470830	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr2:35462305-35462505	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr2:35434871-35435034	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr2:35452055-35452255	HepG2	liver:	n/a	n/a
40	TEAD4	chr2:35453607-35454138	H1-hESC	embryonic stem cell:	n/a	n/a
41	TEAD4	chr2:35453683-35453986	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZKSCAN1	chr2:35436558-35436774	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:35438569..35439074-chr2:35522272..35523184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196085	TF binding region

Extended variants
information (count: 443 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147906063	chr2:35445328-35445329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539836072	chr2:35445407-35445408	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559664983	chr2:35445440-35445441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376157759	chr2:35445447-35445448	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188499658	chr2:35445455-35445456	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534364523	chr2:35445536-35445537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542055274	chr2:35445635-35445636	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs148920299	chr2:35445657-35445658	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191735527	chr2:35445679-35445680	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs571976374	chr2:35445725-35445726	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572664200	chr2:35445731-35445732	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551005851	chr2:35445738-35445739	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184238386	chr2:35445742-35445743	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2119084	chr2:35445779-35445780	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2119085	chr2:35445786-35445787	ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2119086	chr2:35445809-35445810	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566805709	chr2:35445827-35445828	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2119087	chr2:35445849-35445850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531758009	chr2:35445866-35445867	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75253081	chr2:35445875-35445876	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143668629	chr2:35445881-35445882	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs549219915	chr2:35445974-35445975	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569026436	chr2:35446058-35446059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114261606	chr2:35446059-35446060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12613713	chr2:35446100-35446101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73929033	chr2:35446107-35446108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186683126	chr2:35446138-35446139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565282549	chr2:35446157-35446158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191443357	chr2:35446166-35446167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573218788	chr2:35446233-35446234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542092246	chr2:35446280-35446281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370642793	chr2:35446304-35446305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577098743	chr2:35446339-35446340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541449815	chr2:35446366-35446367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561951760	chr2:35446369-35446370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12466296	chr2:35446393-35446394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6760599	chr2:35446400-35446401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6747114	chr2:35446407-35446408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140047761	chr2:35446421-35446422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547781970	chr2:35446426-35446427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115886624	chr2:35446437-35446438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185407636	chr2:35446442-35446443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190599692	chr2:35446443-35446444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566689703	chr2:35446458-35446459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529204947	chr2:35446474-35446475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549258491	chr2:35446477-35446478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569160168	chr2:35446490-35446491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531585201	chr2:35446497-35446498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116297834	chr2:35446501-35446502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551263622	chr2:35446503-35446504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35445600-35445800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:35445600-35446000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:35445800-35447800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:35452200-35452400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:35452200-35452600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:35452200-35454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:35452400-35453400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:35452400-35454800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:35452600-35453000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:35452600-35454600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:35453000-35453400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr2:35453000-35454000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:35453200-35453800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:35453200-35454400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:35453400-35453600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:35453400-35453600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:35453400-35454000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr2:35453600-35453800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:35453600-35454000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:35453800-35454000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:35453800-35454200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:35454000-35454200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:35454000-35454400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:35454000-35454400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:35454000-35454400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:35454000-35457400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:35454200-35455200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:35454200-35455600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:35454400-35454600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:35454800-35455800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:35455600-35458000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:35456000-35456200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:35456000-35456200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:35457400-35458600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:35457600-35458000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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