Variant report

Variant	esv3334702
Chromosome Location	chr1:159415928-159442349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:159442223-159442351	K562	blood:	n/a	n/a
2	BACH1	chr1:159417564-159417686	K562	blood:	n/a	n/a
3	CEBPB	chr1:159416984-159417249	A549	lung:	n/a	chr1:159417076-159417087
4	CEBPB	chr1:159417065-159417144	IMR90	lung:	n/a	chr1:159417076-159417087
5	CEBPB	chr1:159417013-159417166	HepG2	liver:	n/a	chr1:159417076-159417087
6	CEBPB	chr1:159417055-159417095	Hela-S3	cervix:	n/a	chr1:159417076-159417087
7	CTCF	chr1:159419920-159419947	Lung_OC	lung:	n/a	n/a
8	CTCF	chr1:159422820-159422886	GM10248	blood:	n/a	n/a
9	CTCF	chr1:159426233-159426302	GM20000	blood:	n/a	n/a
10	FOS	chr1:159417950-159418468	HUVEC	blood vessel:	n/a	chr1:159418135-159418146
11	FOS	chr1:159439846-159440070	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr1:159442321-159443704	HUVEC	blood vessel:	n/a	n/a
13	FOS	chr1:159439725-159440338	HUVEC	blood vessel:	n/a	chr1:159439757-159439766
14	FOXA1	chr1:159423029-159423319	HepG2	liver:	n/a	n/a
15	FOXA2	chr1:159422855-159423585	A549	lung:	n/a	n/a
16	FOXA2	chr1:159423069-159423337	A549	lung:	n/a	n/a
17	GATA2	chr1:159442264-159443611	HUVEC	blood vessel:	n/a	n/a
18	MAFF	chr1:159429395-159429619	K562	blood:	n/a	n/a
19	MAFF	chr1:159433175-159433359	HepG2	liver:	n/a	chr1:159433221-159433239
20	MAFF	chr1:159429354-159429703	HepG2	liver:	n/a	n/a
21	MAFK	chr1:159429360-159429717	HepG2	liver:	n/a	n/a
22	MAFK	chr1:159429373-159429642	HepG2	liver:	n/a	n/a
23	MAFK	chr1:159432324-159432510	HepG2	liver:	n/a	n/a
24	MAFK	chr1:159429359-159429654	IMR90	lung:	n/a	n/a
25	MAFK	chr1:159429432-159429625	K562	blood:	n/a	n/a
26	MAFK	chr1:159433118-159433383	HepG2	liver:	n/a	chr1:159433259-159433270 chr1:159433259-159433270 chr1:159433260-159433271 chr1:159433258-159433272 chr1:159433260-159433271
27	MEF2A	chr1:159439668-159440107	SK-N-SH	brain:	n/a	chr1:159439758-159439766
28	PAX5	chr1:159418967-159419168	GM12878	blood:	n/a	n/a
29	PAX5	chr1:159418947-159419285	GM12878	blood:	n/a	n/a
30	PBX3	chr1:159439748-159440177	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr1:159439650-159440230	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr1:159442321-159443624	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr1:159432863-159432869	A549	lung:	n/a	n/a
34	POLR2A	chr1:159440604-159440736	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr1:159439261-159439303	K562	blood:	n/a	n/a
36	POLR2A	chr1:159417402-159417500	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr1:159432768-159432943	Gliobla	brain:	n/a	n/a
38	POLR2A	chr1:159439799-159439904	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr1:159432787-159432854	A549	lung:	n/a	n/a
40	POLR2A	chr1:159439722-159439815	K562	blood:	n/a	n/a
41	POLR2A	chr1:159439556-159439755	MCF10A-Er-Src	breast:	n/a	n/a
42	PRDM1	chr1:159432440-159432444	Hela-S3	cervix:	n/a	n/a
43	REST	chr1:159422801-159423000	PANC-1	pancreas:	n/a	n/a
44	STAT3	chr1:159417464-159417499	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr1:159417882-159417901	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr1:159421506-159421695	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:159423044-159423094	Caco-2	colon:	n/a
2	chr1:159439981-159440031	HNPCEpiC	eye:	n/a
3	chr1:159439981-159440031	PFSK-1	brain:	n/a
4	chr1:159439981-159440031	HCT-116	colon:	n/a
5	chr1:159423044-159423094	AoSMC	blood vessel:	n/a
6	chr1:159439981-159440031	K562	blood:	n/a
7	chr1:159440267-159440317	HCPEpiC	choroid plexus:	n/a
8	chr1:159440267-159440317	Caco-2	colon:	n/a
9	chr1:159440267-159440317	RPTEC	kidney:	n/a
10	chr1:159439981-159440031	NHBE	bronchial:	n/a
11	chr1:159423044-159423094	SK-N-SH	brain:	n/a
12	chr1:159439981-159440031	GM06990	blood:	n/a
13	chr1:159439981-159440031	HepG2	liver:	n/a
14	chr1:159440267-159440317	HL-60	blood:	n/a
15	chr1:159423044-159423094	NHBE	bronchial:	n/a
16	chr1:159439981-159440031	BJ	skin:	n/a
17	chr1:159440267-159440317	HRPEpiC	eye:	n/a
18	chr1:159440267-159440317	HCM	heart:	n/a
19	chr1:159440267-159440317	CMK	blood:	n/a
20	chr1:159439981-159440031	Caco-2	colon:	n/a
21	chr1:159439981-159440031	AG09309	skin:	n/a
22	chr1:159439981-159440031	H1-hESC	embryonic stem cell:	embryo
23	chr1:159423044-159423094	HCPEpiC	choroid plexus:	n/a
24	chr1:159440267-159440317	HNPCEpiC	eye:	n/a
25	chr1:159423044-159423094	HCT-116	colon:	n/a
26	chr1:159439981-159440031	HCM	heart:	n/a
27	chr1:159440267-159440317	T-47D	breast:	n/a
28	chr1:159439981-159440031	Jurkat	blood:	n/a
29	chr1:159423044-159423094	AG04450	lung:	fetal
30	chr1:159423044-159423094	NHDF-neo	bronchial:	n/a
31	chr1:159423044-159423094	K562	blood:	n/a
32	chr1:159423044-159423094	A549	lung:	n/a
33	chr1:159440267-159440317	PFSK-1	brain:	n/a
34	chr1:159440267-159440317	AG04449	skin:	fetal
35	chr1:159440267-159440317	HCF	heart:	n/a
36	chr1:159423044-159423094	HEK293	kidney:	embryo
37	chr1:159439981-159440031	LNCaP	prostate:	n/a
38	chr1:159439981-159440031	SK-N-MC	brain:	n/a
39	chr1:159423044-159423094	HCM	heart:	n/a
40	chr1:159439981-159440031	GM19239	blood:	n/a
41	chr1:159440267-159440317	HCT-116	colon:	n/a
42	chr1:159423044-159423094	AG04449	skin:	fetal
43	chr1:159423044-159423094	U87	brain:	n/a
44	chr1:159440267-159440317	NT2-D1	testis:	n/a
45	chr1:159423044-159423094	MCF10A-Er-Src	breast:	n/a
46	chr1:159439981-159440031	AG04449	skin:	fetal
47	chr1:159439981-159440031	HEEpiC	esophagus:	n/a
48	chr1:159440267-159440317	HEK293	kidney:	embryo
49	chr1:159423044-159423094	MCF-7	breast:	n/a
50	chr1:159423044-159423094	HNPCEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:159433771..159435958-chr1:159436365..159438556,2	MCF-7	breast:
2	chr1:159433771..159435958-chr1:159436365..159438556,2	MCF-7	breast:
3	chr1:159431052..159434339-chr1:159434896..159437861,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10J1-1	chr1:159437870-159437946	XLOC_000430
2	lnc-OR10J1-1	chr1:159436111-159436413	XLOC_000430
3	lnc-OR10J3-1	chr1:159438632-159438858	ENSG00000228560.1

No data

Variant related genes	Relation type
ENSG00000224943	TF binding region
ENSG00000228560	TF binding region
ENSG00000224943	CpG island
ENSG00000228560	CpG island
ENSG00000224943	chromatin interactions
AMMECR1	miRNA target sites

Extended variants
information (count: 541 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183717029	chr1:159415937-159415938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7552361	chr1:159415977-159415978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140595988	chr1:159415986-159415987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567072654	chr1:159416005-159416006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142229004	chr1:159416073-159416074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150759029	chr1:159416102-159416103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185122997	chr1:159416127-159416128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537848220	chr1:159416129-159416130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556181120	chr1:159416130-159416131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7521652	chr1:159416139-159416140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544762973	chr1:159416212-159416213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542135720	chr1:159416228-159416229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189541810	chr1:159416239-159416240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55985148	chr1:159416315-159416316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34356071	chr1:159416340-159416341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545532851	chr1:159416381-159416382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564203440	chr1:159416424-159416425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530907490	chr1:159416433-159416434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4417059	chr1:159416451-159416452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531474320	chr1:159416473-159416474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550587427	chr1:159416506-159416507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567534072	chr1:159416507-159416508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561692986	chr1:159416520-159416521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530387602	chr1:159416579-159416580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182186536	chr1:159416588-159416589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546984128	chr1:159416589-159416590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139151441	chr1:159416606-159416607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534409537	chr1:159416640-159416641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187160799	chr1:159416655-159416656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570605148	chr1:159416656-159416657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192646238	chr1:159416667-159416668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567114958	chr1:159416679-159416680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556117527	chr1:159416686-159416687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539282273	chr1:159416708-159416709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34388918	chr1:159416725-159416726	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs535354325	chr1:159416728-159416729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554045458	chr1:159416771-159416772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572295581	chr1:159416772-159416773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183769690	chr1:159416787-159416788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567523959	chr1:159416810-159416811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149941766	chr1:159416865-159416866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558017273	chr1:159416882-159416883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576181277	chr1:159416904-159416905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111915771	chr1:159416932-159416933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188261715	chr1:159416948-159416949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376334888	chr1:159417013-159417014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528904232	chr1:159417024-159417025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs368541526	chr1:159417034-159417035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145758693	chr1:159417037-159417038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560838681	chr1:159417108-159417109	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	19602461	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159412200-159416800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:159412400-159416600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:159416600-159417600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:159416800-159417600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr1:159416800-159418200	Enhancers	HUVEC	blood vessel
6	chr1:159418200-159418600	Flanking Active TSS	HUVEC	blood vessel
7	chr1:159418600-159419000	Enhancers	HUVEC	blood vessel
8	chr1:159432600-159433000	ZNF genes & repeats	Gastric	stomach
9	chr1:159432800-159433000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:159434600-159434800	Enhancers	Liver	Liver
11	chr1:159434800-159435200	Flanking Active TSS	Liver	Liver
12	chr1:159435200-159438400	Active TSS	Liver	Liver
13	chr1:159438200-159440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:159438200-159444600	Enhancers	HUVEC	blood vessel
15	chr1:159438400-159438600	Flanking Active TSS	Liver	Liver
16	chr1:159438400-159439600	Enhancers	Osteobl	bone
17	chr1:159438600-159438800	Active TSS	Liver	Liver
18	chr1:159438800-159439000	Flanking Active TSS	Liver	Liver
19	chr1:159438800-159439000	Enhancers	Right Atrium	heart
20	chr1:159439000-159440400	Enhancers	Liver	Liver
21	chr1:159439200-159439600	Weak transcription	Right Atrium	heart
22	chr1:159439400-159440200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:159439600-159440000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:159439600-159440000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:159439600-159440200	Enhancers	Right Atrium	heart
26	chr1:159439600-159441200	Weak transcription	Osteobl	bone
27	chr1:159439600-159445400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:159440000-159440400	Enhancers	Duodenum Mucosa	Duodenum
29	chr1:159440000-159440400	Enhancers	Left Ventricle	heart
30	chr1:159440400-159456600	Weak transcription	Liver	Liver
31	chr1:159441200-159441600	Enhancers	Osteobl	bone
32	chr1:159441600-159442600	Weak transcription	Osteobl	bone

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