Variant report

Variant	nsv520509
Chromosome Location	chr1:211021787-211041590
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	chr1:211030816-211030971	HepG2	liver:	n/a	chr1:211030912-211030925 chr1:211030913-211030924
2	CEBPB	chr1:211040496-211040590	A549	lung:	n/a	n/a
3	CEBPB	chr1:211030775-211030947	A549	lung:	n/a	chr1:211030912-211030925 chr1:211030913-211030924
4	CTCF	chr1:211032727-211032770	Medullo	brain:	n/a	n/a
5	CTCF	chr1:211034206-211034280	GM13976	blood:	n/a	n/a
6	CTCF	chr1:211038860-211039010	HFF-Myc	foreskin:	n/a	n/a
7	FOS	chr1:211040000-211040183	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:211030585-211030708	MCF10A-Er-Src	breast:	n/a	chr1:211030678-211030686 chr1:211030679-211030686
9	FOS	chr1:211031086-211031246	MCF10A-Er-Src	breast:	n/a	chr1:211031096-211031104 chr1:211031095-211031104 chr1:211031096-211031105 chr1:211031095-211031105 chr1:211031094-211031106 chr1:211031096-211031103
10	GATA2	chr1:211031086-211031409	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr1:211032718-211033066	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr1:211031079-211031747	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr1:211036672-211036811	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr1:211026153-211026321	SH-SY5Y	brain:	n/a	chr1:211026267-211026274 chr1:211026267-211026274 chr1:211026267-211026274
15	HEY1	chr1:211035460-211035672	K562	blood:	n/a	n/a
16	JUND	chr1:211030955-211031208	HepG2	liver:	n/a	chr1:211031094-211031105 chr1:211031096-211031104 chr1:211031095-211031104 chr1:211031096-211031105 chr1:211031095-211031105 chr1:211031094-211031106 chr1:211031096-211031103
17	MAFF	chr1:211039957-211040237	HepG2	liver:	n/a	chr1:211040066-211040084
18	MAFF	chr1:211039892-211040247	K562	blood:	n/a	chr1:211040066-211040084
19	MAFK	chr1:211039999-211040127	Hela-S3	cervix:	n/a	chr1:211040067-211040082
20	MAFK	chr1:211039895-211040247	IMR90	lung:	n/a	chr1:211040067-211040082
21	MAFK	chr1:211039904-211040237	K562	blood:	n/a	chr1:211040067-211040082
22	MAFK	chr1:211039906-211040249	HepG2	liver:	n/a	chr1:211040067-211040082
23	MAFK	chr1:211039897-211040231	H1-hESC	embryonic stem cell:	n/a	chr1:211040067-211040082
24	MAFK	chr1:211039937-211040224	HepG2	liver:	n/a	chr1:211040067-211040082
25	MAX	chr1:211028877-211029118	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr1:211028853-211029120	H1-hESC	embryonic stem cell:	n/a	n/a
27	NFE2	chr1:211026191-211026221	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:211035576-211035768	Gliobla	brain:	n/a	n/a
29	POLR2A	chr1:211035790-211035834	Gliobla	brain:	n/a	n/a
30	POLR2A	chr1:211035462-211035881	GM12892	blood:	n/a	n/a
31	POLR2A	chr1:211035550-211035614	A549	lung:	n/a	n/a
32	POLR2A	chr1:211035579-211035718	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr1:211031638-211032158	K562	blood:	n/a	n/a
34	POLR2A	chr1:211035499-211035666	GM12891	blood:	n/a	n/a
35	POLR2A	chr1:211035581-211035711	A549	lung:	n/a	n/a
36	POLR2A	chr1:211035581-211035779	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr1:211035534-211035628	A549	lung:	n/a	n/a
38	POLR2A	chr1:211021895-211021904	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr1:211041269-211041289	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr1:211038599-211039048	K562	blood:	n/a	n/a
41	POLR2A	chr1:211030419-211030601	K562	blood:	n/a	n/a
42	POLR2A	chr1:211035444-211035797	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr1:211035684-211035717	MCF-7	breast:	n/a	n/a
44	POLR2A	chr1:211035528-211035632	GM12878	blood:	n/a	n/a
45	POLR2A	chr1:211035500-211035657	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr1:211035516-211035725	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr1:211040151-211040206	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr1:211037510-211037517	A549	lung:	n/a	n/a
49	POLR2A	chr1:211035613-211035676	MCF-7	breast:	n/a	n/a
50	REST	chr1:211028888-211029052	HepG2	liver:	n/a	chr1:211028966-211028984 chr1:211028971-211028980 chr1:211028965-211028985 chr1:211028969-211028982 chr1:211028965-211028979 chr1:211028965-211028985

No.	Distal block	Cell Line	Cell type
1	chr1:211034100..211037099-chr11:9405144..9407454,2	MCF-7	breast:
2	chr1:211035584..211036100-chr11:9405909..9406698,6	HCT-116	colon:
3	chr1:211034614..211036383-chr1:211038052..211040181,2	K562	blood:
4	chr1:210545117..210548086-chr1:211025164..211027097,2	MCF-7	breast:
5	chr1:211035595..211037101-chr11:9405067..9407537,2	K562	blood:
6	chr1:211034097..211035602-chr11:9405126..9407786,2	MCF-7	breast:

Variant related genes	Relation type
IPO8P1	TF binding region
ENSG00000200972	chromatin interactions
ENSG00000224668	chromatin interactions
ENSG00000205339	chromatin interactions

Extended variants
information (count: 752 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4532912	chr1:211021787-211021788	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187850398	chr1:211021807-211021808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575049409	chr1:211021854-211021855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149892749	chr1:211021859-211021860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1112999	chr1:211021912-211021913	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145819108	chr1:211021930-211021931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560362283	chr1:211021946-211021947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560446365	chr1:211021960-211021961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60234514	chr1:211021964-211021965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192374385	chr1:211022004-211022005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545844340	chr1:211022011-211022012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112079271	chr1:211022025-211022026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111858642	chr1:211022026-211022027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542311314	chr1:211022031-211022032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562187435	chr1:211022087-211022088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531586250	chr1:211022094-211022095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529871521	chr1:211022099-211022100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3905343	chr1:211022249-211022250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs555220652	chr1:211022294-211022295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184935404	chr1:211022333-211022334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189350754	chr1:211022337-211022338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192391805	chr1:211022367-211022368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35280154	chr1:211022376-211022377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532280714	chr1:211022422-211022423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533922444	chr1:211022515-211022516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140645520	chr1:211022516-211022517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570495527	chr1:211022542-211022543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537824881	chr1:211022572-211022573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144530778	chr1:211022573-211022574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575092797	chr1:211022629-211022630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573632116	chr1:211022641-211022642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141410796	chr1:211022655-211022656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377395463	chr1:211022669-211022670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184824991	chr1:211022679-211022680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145021692	chr1:211022684-211022685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545932339	chr1:211022690-211022691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150451228	chr1:211022708-211022709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564221395	chr1:211022711-211022712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552477273	chr1:211022729-211022730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs7541656	chr1:211022730-211022731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs112862921	chr1:211022775-211022776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530005074	chr1:211022802-211022803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189705746	chr1:211022811-211022812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560429731	chr1:211022812-211022813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527468890	chr1:211022827-211022828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150417883	chr1:211022897-211022898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374211715	chr1:211022903-211022904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181874863	chr1:211022950-211022951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570583358	chr1:211022951-211022952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114870146	chr1:211023013-211023014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211016400-211024200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:211016600-211023400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:211021200-211022000	Strong transcription	HSMM	muscle
4	chr1:211022000-211024200	Weak transcription	HSMM	muscle
5	chr1:211022600-211024400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:211022600-211027200	Enhancers	Brain Substantia Nigra	brain
7	chr1:211023000-211024400	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:211023000-211027000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:211023400-211026200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:211023400-211026800	Enhancers	Brain Angular Gyrus	brain
11	chr1:211023400-211027000	Enhancers	Brain Anterior Caudate	brain
12	chr1:211023800-211024200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:211024000-211024400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:211024000-211024800	Enhancers	HSMMtube	muscle
15	chr1:211024200-211024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:211024200-211024600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:211024200-211024600	Enhancers	A549	lung
18	chr1:211024200-211024800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:211024200-211024800	Enhancers	HSMM	muscle
20	chr1:211024400-211024800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr1:211024400-211024800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr1:211024800-211025600	Enhancers	Liver	Liver
23	chr1:211024800-211026800	Enhancers	Brain Hippocampus Middle	brain
24	chr1:211024800-211027000	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:211024800-211035400	Weak transcription	HSMM	muscle
26	chr1:211024800-211046800	Weak transcription	HSMMtube	muscle
27	chr1:211026200-211029800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:211026800-211027000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:211026800-211030400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:211026800-211030600	Weak transcription	Brain Angular Gyrus	brain
31	chr1:211027000-211029800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:211027000-211030400	Weak transcription	Brain Anterior Caudate	brain
33	chr1:211027000-211030800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:211027000-211035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:211027200-211030600	Weak transcription	Brain Substantia Nigra	brain
36	chr1:211029800-211030000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:211029800-211032600	Enhancers	Brain Cingulate Gyrus	brain
38	chr1:211030000-211030600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:211030400-211031200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr1:211030400-211031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:211030400-211031400	Enhancers	Brain Anterior Caudate	brain
42	chr1:211030400-211031600	Enhancers	Brain Hippocampus Middle	brain
43	chr1:211030400-211031800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:211030400-211032000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:211030600-211030800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:211030600-211031000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:211030600-211031400	Enhancers	Brain Substantia Nigra	brain
48	chr1:211030600-211032000	Enhancers	Brain Angular Gyrus	brain
49	chr1:211030800-211031400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:211031000-211031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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