Variant report

Variant	nsv470764
Chromosome Location	chr1:191772972-191875752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:191857246-191857609	K562	blood:	n/a	n/a
2	ARID3A	chr1:191845875-191846144	K562	blood:	n/a	n/a
3	ARID3A	chr1:191812278-191812435	K562	blood:	n/a	n/a
4	ARID3A	chr1:191857928-191858619	K562	blood:	n/a	n/a
5	ARID3A	chr1:191792309-191793479	K562	blood:	n/a	n/a
6	ARID3A	chr1:191791882-191792051	K562	blood:	n/a	n/a
7	ATF1	chr1:191791954-191792148	K562	blood:	n/a	n/a
8	ATF1	chr1:191858055-191858697	K562	blood:	n/a	n/a
9	ATF1	chr1:191792801-191793314	K562	blood:	n/a	n/a
10	ATF1	chr1:191821456-191821889	K562	blood:	n/a	n/a
11	ATF1	chr1:191845848-191846111	K562	blood:	n/a	n/a
12	ATF2	chr1:191838896-191839199	GM12878	blood:	n/a	n/a
13	ATF3	chr1:191820973-191821210	K562	blood:	n/a	n/a
14	ATF3	chr1:191858154-191858679	K562	blood:	n/a	n/a
15	BATF	chr1:191838976-191839163	GM12878	blood:	n/a	n/a
16	BHLHE40	chr1:191857301-191857435	K562	blood:	n/a	n/a
17	BHLHE40	chr1:191858061-191858651	K562	blood:	n/a	n/a
18	BHLHE40	chr1:191853684-191853687	K562	blood:	n/a	n/a
19	BHLHE40	chr1:191792761-191793301	K562	blood:	n/a	n/a
20	CBX3	chr1:191792445-191793273	K562	blood:	n/a	n/a
21	CBX3	chr1:191782745-191783119	K562	blood:	n/a	n/a
22	CBX3	chr1:191782674-191783126	K562	blood:	n/a	n/a
23	CBX3	chr1:191861784-191862212	K562	blood:	n/a	n/a
24	CBX3	chr1:191861885-191862176	K562	blood:	n/a	n/a
25	CBX3	chr1:191858024-191858814	K562	blood:	n/a	n/a
26	CCNT2	chr1:191858179-191858676	K562	blood:	n/a	n/a
27	CCNT2	chr1:191792545-191793400	K562	blood:	n/a	n/a
28	CEBPB	chr1:191834813-191834972	H1-hESC	embryonic stem cell:	n/a	chr1:191834839-191834850
29	CEBPB	chr1:191845874-191846144	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:191834701-191834983	HepG2	liver:	n/a	chr1:191834839-191834850
31	CEBPB	chr1:191834669-191835023	IMR90	lung:	n/a	chr1:191834839-191834850
32	CEBPB	chr1:191834712-191834974	K562	blood:	n/a	chr1:191834839-191834850
33	CEBPB	chr1:191805286-191805538	A549	lung:	n/a	n/a
34	CEBPB	chr1:191864221-191864551	IMR90	lung:	n/a	chr1:191864384-191864395
35	CEBPB	chr1:191808825-191809415	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:191792850-191793336	K562	blood:	n/a	n/a
37	CEBPB	chr1:191782787-191783000	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr1:191774586-191774668	HepG2	liver:	n/a	chr1:191774601-191774612 chr1:191774600-191774613 chr1:191774600-191774611
39	CEBPB	chr1:191864209-191864553	K562	blood:	n/a	chr1:191864384-191864395
40	CEBPB	chr1:191792624-191793308	K562	blood:	n/a	chr1:191792783-191792795
41	CEBPB	chr1:191857259-191857476	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:191830317-191830421	K562	blood:	n/a	n/a
43	CEBPB	chr1:191858078-191858708	K562	blood:	n/a	n/a
44	CEBPB	chr1:191864244-191864526	HepG2	liver:	n/a	chr1:191864384-191864395
45	CEBPB	chr1:191774590-191774666	K562	blood:	n/a	chr1:191774601-191774612 chr1:191774600-191774613 chr1:191774600-191774611
46	CEBPB	chr1:191845843-191846117	K562	blood:	n/a	n/a
47	CEBPB	chr1:191864254-191864514	A549	lung:	n/a	chr1:191864384-191864395
48	CEBPB	chr1:191858098-191858539	K562	blood:	n/a	n/a
49	CEBPB	chr1:191791786-191791887	K562	blood:	n/a	n/a
50	CEBPB	chr1:191858083-191858671	K562	blood:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
2	chr1:191844983..191847069-chr1:191850769..191852531,2	K562	blood:
3	chr1:191850241..191852634-chr1:191855846..191858464,3	K562	blood:
4	chr1:191850241..191852634-chr1:191855846..191858464,3	K562	blood:
5	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:
6	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:
7	chr1:191849617..191851741-chr1:191856964..191859134,3	K562	blood:
8	chr1:191777063..191778903-chr1:191781034..191782929,2	K562	blood:
9	chr1:191836436..191839226-chr1:191842786..191844832,2	K562	blood:
10	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
11	chr1:191841073..191843437-chr1:191843646..191846298,2	K562	blood:
12	chr1:191773972..191778173-chr1:191779534..191782112,5	K562	blood:
13	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
14	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
15	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:
16	chr1:191858381..191859932-chr1:191864838..191867185,2	K562	blood:
17	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
18	chr1:191784628..191787361-chr1:191791989..191794077,2	K562	blood:
19	chr1:191854730..191856594-chr1:191856723..191859160,2	K562	blood:
20	chr1:191844983..191847069-chr1:191850769..191852531,2	K562	blood:
21	chr1:191849617..191851741-chr1:191856964..191859134,3	K562	blood:
22	chr1:191858381..191861097-chr1:191864368..191867185,2	K562	blood:
23	chr1:191854730..191856594-chr1:191856723..191859160,2	K562	blood:
24	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:
25	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
26	chr1:191788611..191790988-chr1:191796591..191799173,2	MCF-7	breast:
27	chr1:191777063..191778903-chr1:191781034..191782929,2	K562	blood:
28	chr1:191807170..191809175-chr1:191810201..191811757,2	K562	blood:
29	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
30	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-3	chr1:191835950-191836090	XLOC_001132
2	lnc-UCHL5-3	chr1:191827837-191828310	XLOC_001132
3	lnc-UCHL5-3	chr1:191859195-191859359	XLOC_001132
4	lnc-UCHL5-3	chr1:191827893-191828310	XLOC_001132
5	lnc-RGS18-1	chr1:191844625-191844830	ENSG00000228215.2
6	lnc-RGS18-1	chr1:191844625-191844830	XLOC_000507

No data

Variant related genes	Relation type
ENSG00000228215	TF binding region
ENSG00000223344	TF binding region
ENSG00000228215	chromatin interactions
ENSG00000223344	chromatin interactions
PLAG1	miRNA target sites
CCNT2	miRNA target sites

Extended variants
information (count: 1271 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573329164	chr1:191782829-191782830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545599998	chr1:191782890-191782891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564622968	chr1:191782908-191782909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530565918	chr1:191782943-191782944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183946525	chr1:191782944-191782945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549764553	chr1:191782951-191782952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560507218	chr1:191782969-191782970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529696183	chr1:191782979-191782980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564786658	chr1:191782980-191782981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566771991	chr1:191782983-191782984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188938026	chr1:191783005-191783006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552428069	chr1:191783028-191783029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139439081	chr1:191783041-191783042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537584754	chr1:191783045-191783046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141554866	chr1:191783073-191783074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567505627	chr1:191783108-191783109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368396650	chr1:191783125-191783126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553357165	chr1:191783165-191783166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371958828	chr1:191783208-191783209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547557223	chr1:191783210-191783211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200534127	chr1:191783304-191783305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536478548	chr1:191783315-191783316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558766559	chr1:191783316-191783317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146384447	chr1:191783321-191783322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61821166	chr1:191783344-191783345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs36000969	chr1:191783356-191783357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560671216	chr1:191783361-191783362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192329021	chr1:191783380-191783381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540255706	chr1:191783402-191783403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184276787	chr1:191783450-191783451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187315409	chr1:191783482-191783483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113258027	chr1:191783483-191783484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569952757	chr1:191783493-191783494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537814038	chr1:191783501-191783502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553107164	chr1:191783505-191783506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531540740	chr1:191783509-191783510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146607112	chr1:191783563-191783564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373290221	chr1:191783574-191783575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191760482	chr1:191783576-191783577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536237657	chr1:191783607-191783608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148780663	chr1:191783611-191783612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112072660	chr1:191783635-191783636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567043211	chr1:191783649-191783650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538904580	chr1:191783665-191783666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556525659	chr1:191783705-191783706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184629727	chr1:191783759-191783760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189143996	chr1:191783784-191783785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369138341	chr1:191783815-191783816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544415203	chr1:191783846-191783847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142303236	chr1:191783883-191783884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
Ovarian neoplasms	16753589	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
Hepatocellular carcinoma	18803288	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191782800-191784200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:191791600-191791800	Enhancers	K562	blood
3	chr1:191791600-191792400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:191791600-191792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:191791800-191793000	Flanking Active TSS	K562	blood
6	chr1:191791800-191793600	Enhancers	Primary hematopoietic stem cells	blood
7	chr1:191791800-191793600	Enhancers	Dnd41	blood
8	chr1:191792200-191793000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:191792200-191793600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:191792200-191793600	Enhancers	HUVEC	blood vessel
11	chr1:191792400-191792800	Enhancers	Fetal Brain Male	brain
12	chr1:191792400-191793200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:191792400-191793400	Enhancers	Fetal Lung	lung
14	chr1:191792600-191793000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:191792600-191793200	Enhancers	Fetal Heart	heart
16	chr1:191792800-191793200	Enhancers	Brain Hippocampus Middle	brain
17	chr1:191792800-191793200	Enhancers	Fetal Stomach	stomach
18	chr1:191792800-191793400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:191792800-191793400	Active TSS	Fetal Brain Male	brain
20	chr1:191793000-191793200	Enhancers	K562	blood
21	chr1:191793000-191793400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:191793000-191793600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:191793200-191793400	Flanking Active TSS	K562	blood
24	chr1:191793200-191793600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:191798000-191798600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:191808600-191809000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:191808800-191809000	Enhancers	NH-A	brain
28	chr1:191808800-191810000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:191809000-191809400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:191809000-191809400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr1:191809000-191809400	Enhancers	Fetal Heart	heart
32	chr1:191809000-191809400	Flanking Active TSS	NH-A	brain
33	chr1:191809000-191809800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:191809200-191809600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:191809200-191809800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:191809400-191809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:191812000-191812800	Enhancers	HUVEC	blood vessel
38	chr1:191813000-191813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:191820600-191821800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:191820800-191821600	Enhancers	NH-A	brain
41	chr1:191820800-191822400	Enhancers	K562	blood
42	chr1:191820800-191823400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:191821000-191822200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:191821400-191822000	Enhancers	Dnd41	blood
45	chr1:191821800-191823200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:191827000-191827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:191829000-191829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:191839000-191840400	Enhancers	GM12878-XiMat	blood
49	chr1:191840200-191841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:191844400-191844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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