Variant report

Variant	esv3451967
Chromosome Location	chr1:159299928-159322549
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	CTCF	chr1:159307980-159308130	RPTEC	kidney:	n/a	n/a
2	CTCF	chr1:159307920-159308070	GM06990	blood:	n/a	n/a
3	CTCF	chr1:159315460-159315610	HCT-116	colon:	n/a	n/a
4	CTCF	chr1:159315340-159315490	HMF	breast:	n/a	n/a
5	CTCF	chr1:159307960-159308110	RPTEC	kidney:	n/a	n/a
6	CTCF	chr1:159307880-159308030	A549	lung:	n/a	n/a
7	CTCF	chr1:159307961-159308045	Gliobla	brain:	n/a	n/a
8	E2F4	chr1:159311288-159311653	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr1:159309809-159309953	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr1:159310159-159310359	MCF10A-Er-Src	breast:	n/a	n/a
11	FAM48A	chr1:159314228-159314333	GM12878	blood:	n/a	n/a
12	FOS	chr1:159311691-159311838	MCF10A-Er-Src	breast:	n/a	chr1:159311788-159311798 chr1:159311788-159311798
13	GATA1	chr1:159322043-159322719	PBDE	blood:	n/a	chr1:159322511-159322528 chr1:159322433-159322446 chr1:159322250-159322266 chr1:159322248-159322269 chr1:159322344-159322354 chr1:159322244-159322261
14	GATA3	chr1:159316195-159316359	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr1:159315430-159315530	SH-SY5Y	brain:	n/a	n/a
16	IRF1	chr1:159314315-159314363	K562	blood:	n/a	n/a
17	MAFK	chr1:159313472-159313678	HepG2	liver:	n/a	chr1:159313565-159313576 chr1:159313560-159313575 chr1:159313565-159313576 chr1:159313564-159313575 chr1:159313564-159313575
18	MAFK	chr1:159313507-159313642	HepG2	liver:	n/a	chr1:159313565-159313576 chr1:159313560-159313575 chr1:159313565-159313576 chr1:159313564-159313575 chr1:159313564-159313575
19	MAFK	chr1:159315070-159315214	HepG2	liver:	n/a	n/a
20	POLR2A	chr1:159311686-159311698	GM12878	blood:	n/a	n/a
21	POLR2A	chr1:159311752-159311795	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:159303646-159303850	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:159301120-159301155	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr1:159319311-159319347	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr1:159307795-159307995	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr1:159307045-159307436	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr1:159304898-159305056	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr1:159311571-159311732	MCF10A-Er-Src	breast:	n/a	chr1:159311577-159311585
29	TBP	chr1:159307138-159307139	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR10J3-1	chr1:159315956-159316479	ENSG00000228560.1
2	lnc-FCER1A-1	chr1:159321351-159321442	ucscGeneNc_uc001fxp_1
3	lnc-FCER1A-1	chr1:159320251-159321226	ucscGeneNc_uc001fxp_1

Variant related genes	Relation type
OR10J7P	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192850820	chr1:159307860-159307861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534450630	chr1:159307885-159307886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372439370	chr1:159307925-159307926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565977230	chr1:159307945-159307946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144692839	chr1:159307951-159307952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557881964	chr1:159307953-159307954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570032763	chr1:159308032-159308033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12074934	chr1:159308071-159308072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555509325	chr1:159308126-159308127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9651047	chr1:159308131-159308132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541212286	chr1:159308136-159308137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553493874	chr1:159308149-159308150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184874162	chr1:159308150-159308151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74122830	chr1:159308154-159308155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563438408	chr1:159308164-159308165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530748297	chr1:159308183-159308184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34430650	chr1:159308190-159308191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563636049	chr1:159308201-159308202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529222717	chr1:159308205-159308206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574449148	chr1:159308266-159308267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560771636	chr1:159308309-159308310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188588734	chr1:159308319-159308320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77195778	chr1:159308320-159308321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60510284	chr1:159308321-159308322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72093521	chr1:159308322-159308323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546240273	chr1:159308377-159308378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532120145	chr1:159308394-159308395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138514952	chr1:159308440-159308441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140237479	chr1:159308493-159308494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551571769	chr1:159308496-159308497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73029816	chr1:159308516-159308517	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184897428	chr1:159308521-159308522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs16842041	chr1:159308539-159308540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367817720	chr1:159308562-159308563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556021499	chr1:159308584-159308585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531469001	chr1:159308590-159308591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535026636	chr1:159308593-159308594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553375310	chr1:159308603-159308604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578155811	chr1:159308622-159308623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545505020	chr1:159308635-159308636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557222394	chr1:159308676-159308677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575395591	chr1:159308684-159308685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542597833	chr1:159308738-159308739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376236962	chr1:159308811-159308812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113721284	chr1:159308818-159308819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528330163	chr1:159308824-159308825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539862116	chr1:159308829-159308830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113301705	chr1:159308873-159308874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547991269	chr1:159308990-159308991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150365073	chr1:159308999-159309000	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159307800-159309200	Enhancers	Fetal Intestine Small	intestine
2	chr1:159308400-159309000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:159308600-159308800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:159308600-159309200	Enhancers	Fetal Intestine Large	intestine
5	chr1:159309200-159309600	Weak transcription	Fetal Intestine Large	intestine
6	chr1:159309200-159310200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:159309600-159310200	Enhancers	Fetal Intestine Large	intestine
8	chr1:159310200-159310400	Enhancers	Fetal Intestine Small	intestine
9	chr1:159311600-159312800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:159312200-159313200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:159321600-159322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:159321600-159322800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links