Variant report

Variant	esv3452385
Chromosome Location	chr1:93291943-93292882
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	ARID3A	chr1:93292462-93292463	K562	blood:	n/a	n/a
2	ATF3	chr1:93292315-93292609	K562	blood:	n/a	n/a
3	FOS	chr1:93292487-93292609	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:93292436-93292615	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:93292504-93292587	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr1:93292410-93292648	MCF10A-Er-Src	breast:	n/a	n/a
7	FOSL1	chr1:93292348-93292741	K562	blood:	n/a	n/a
8	FOSL2	chr1:93292336-93292680	HepG2	liver:	n/a	n/a
9	FOSL2	chr1:93292387-93292599	A549	lung:	n/a	n/a
10	FOSL2	chr1:93292336-93292659	A549	lung:	n/a	n/a
11	JUN	chr1:93292299-93292671	K562	blood:	n/a	n/a
12	JUND	chr1:93292345-93292691	Hela-S3	cervix:	n/a	chr1:93292527-93292538
13	JUND	chr1:93292395-93292679	HepG2	liver:	n/a	chr1:93292527-93292538
14	JUND	chr1:93292351-93292713	K562	blood:	n/a	chr1:93292527-93292538
15	JUND	chr1:93292367-93292661	HepG2	liver:	n/a	chr1:93292527-93292538
16	JUND	chr1:93292413-93292582	HepG2	liver:	n/a	chr1:93292527-93292538
17	MAX	chr1:93292342-93292677	K562	blood:	n/a	n/a
18	RCOR1	chr1:93292548-93292596	K562	blood:	n/a	n/a
19	ZNF384	chr1:93292404-93292712	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93290646..93292162-chr1:93296291..93299624,3	K562	blood:
2	chr1:93290582..93295028-chr1:93295962..93297870,4	MCF-7	breast:

Variant related genes	Relation type
RPL5	TF binding region
ENSG00000122406	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12042488	chr1:93291944-93291945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556880509	chr1:93291953-93291954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576726326	chr1:93291968-93291969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533190384	chr1:93291979-93291980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545220736	chr1:93291982-93291983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560231623	chr1:93292009-93292010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527543881	chr1:93292018-93292019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs548706729	chr1:93292019-93292020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111933957	chr1:93292022-93292023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374739094	chr1:93292035-93292036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181799537	chr1:93292040-93292041	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531318513	chr1:93292043-93292044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549497766	chr1:93292054-93292055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570984436	chr1:93292060-93292061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs539689441	chr1:93292061-93292062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373473955	chr1:93292065-93292066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376371954	chr1:93292069-93292070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369675209	chr1:93292097-93292098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567061225	chr1:93292102-93292103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115809217	chr1:93292114-93292115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555498775	chr1:93292148-93292149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183731184	chr1:93292157-93292158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141528221	chr1:93292193-93292194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556742441	chr1:93292197-93292198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572522330	chr1:93292214-93292215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147508701	chr1:93292218-93292219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140243995	chr1:93292232-93292233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572274785	chr1:93292239-93292240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs376607298	chr1:93292268-93292269	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs145641147	chr1:93292289-93292290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561006963	chr1:93292290-93292291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562604671	chr1:93292334-93292335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs12082659	chr1:93292347-93292348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs147316068	chr1:93292380-93292381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532038665	chr1:93292413-93292414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551684755	chr1:93292429-93292430	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189399848	chr1:93292449-93292450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs80055984	chr1:93292468-93292469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574750844	chr1:93292469-93292470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549680923	chr1:93292488-93292489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370167460	chr1:93292520-93292521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181450713	chr1:93292537-93292538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186555684	chr1:93292552-93292553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556559199	chr1:93292592-93292593	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375973180	chr1:93292614-93292615	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371173965	chr1:93292632-93292633	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200174648	chr1:93292638-93292639	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139473166	chr1:93292639-93292640	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs539109504	chr1:93292664-93292665	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377715112	chr1:93292681-93292682	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93289000-93292200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:93289800-93292400	Weak transcription	HepG2	liver
3	chr1:93289800-93297400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:93292200-93292600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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