Variant report

Variant	esv18714
Chromosome Location	chr15:45115951-45118625
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	BHLHE40	chr15:45116583-45116784	HepG2	liver:	n/a	n/a
2	CTCF	chr15:45116974-45117018	LNCaP	prostate:	n/a	n/a
3	FOSL2	chr15:45116396-45117507	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
4	FOSL2	chr15:45116389-45117304	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
5	FOSL2	chr15:45117823-45118083	HepG2	liver:	n/a	chr15:45117938-45117950 chr15:45117936-45117947 chr15:45117940-45117948 chr15:45117938-45117945
6	FOXA1	chr15:45116235-45117346	HepG2	liver:	n/a	n/a
7	FOXA1	chr15:45118515-45118872	HepG2	liver:	n/a	chr15:45118744-45118756 chr15:45118654-45118666 chr15:45118658-45118670
8	FOXA2	chr15:45117046-45117197	HepG2	liver:	n/a	n/a
9	HEY1	chr15:45116416-45117405	HepG2	liver:	n/a	chr15:45116885-45116894
10	HEY1	chr15:45116535-45117370	HepG2	liver:	n/a	chr15:45116885-45116894
11	HNF4A	chr15:45117031-45117210	HepG2	liver:	n/a	chr15:45117113-45117125 chr15:45117105-45117120 chr15:45117111-45117126
12	HNF4A	chr15:45117025-45117214	HepG2	liver:	n/a	chr15:45117113-45117125 chr15:45117105-45117120 chr15:45117111-45117126
13	HNF4G	chr15:45117039-45117192	HepG2	liver:	n/a	chr15:45117113-45117125 chr15:45117105-45117120 chr15:45117110-45117125
14	JUND	chr15:45116819-45117283	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
15	JUND	chr15:45116458-45116799	HepG2	liver:	n/a	n/a
16	JUND	chr15:45117518-45117689	HepG2	liver:	n/a	n/a
17	JUND	chr15:45116416-45117334	HepG2	liver:	n/a	chr15:45116900-45116910 chr15:45116900-45116910
18	MYBL2	chr15:45116485-45117420	HepG2	liver:	n/a	n/a
19	MYBL2	chr15:45116386-45117345	HepG2	liver:	n/a	n/a
20	MYC	chr15:45116611-45116702	HepG2	liver:	n/a	n/a
21	MYC	chr15:45116905-45116907	HepG2	liver:	n/a	n/a
22	MYC	chr15:45117044-45117059	HepG2	liver:	n/a	n/a
23	MYC	chr15:45116908-45117040	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:45116522-45117337	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:45116651-45116870	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:45116636-45117192	GM12892	blood:	n/a	n/a
27	POLR2A	chr15:45116547-45117668	GM12892	blood:	n/a	n/a
28	POLR2A	chr15:45116508-45117450	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:45117137-45117322	HepG2	liver:	n/a	n/a
30	POLR2A	chr15:45116457-45117188	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr15:45116527-45117030	GM12891	blood:	n/a	n/a
32	POLR2A	chr15:45116992-45117207	K562	blood:	n/a	n/a
33	POLR2A	chr15:45116496-45117763	GM12892	blood:	n/a	n/a
34	POLR2A	chr15:45116405-45117467	GM12891	blood:	n/a	n/a
35	POLR2A	chr15:45117319-45117434	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:45116528-45117341	HepG2	liver:	n/a	n/a
37	POLR2A	chr15:45116614-45117012	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr15:45116595-45116995	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:45116876-45116895	MCF-7	breast:	n/a	n/a
40	POLR2A	chr15:45116569-45116963	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:45116569-45117038	HepG2	liver:	n/a	n/a
42	POLR2A	chr15:45117038-45117587	GM12891	blood:	n/a	n/a
43	POLR2A	chr15:45117096-45117355	HepG2	liver:	n/a	n/a
44	POLR2A	chr15:45116854-45116885	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:45116416-45117213	GM12878	blood:	n/a	n/a
46	POLR2A	chr15:45116497-45117103	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr15:45116472-45117756	GM12892	blood:	n/a	n/a
48	POLR2A	chr15:45116474-45117397	HepG2	liver:	n/a	n/a
49	POLR2A	chr15:45116594-45116974	K562	blood:	n/a	n/a
50	POLR2A	chr15:45116750-45116776	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000259187	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1720717	chr15:45116106-45116107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1669844	chr15:45116468-45116469	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs374967442	chr15:45116838-45116839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2470922	chr15:45116975-45116976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76390687	chr15:45117118-45117119	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs78891504	chr15:45117127-45117128	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150651962	chr15:45117139-45117140	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560860652	chr15:45117219-45117220	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs58236169	chr15:45117248-45117249	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs56800584	chr15:45117305-45117306	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138477315	chr15:45117326-45117327	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs529851275	chr15:45117357-45117358	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202129209	chr15:45117417-45117418	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546695227	chr15:45117427-45117428	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs117306665	chr15:45117456-45117457	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs528648040	chr15:45117461-45117462	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs139480833	chr15:45117463-45117464	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs202220798	chr15:45117701-45117702	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200547967	chr15:45117704-45117705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs200701528	chr15:45117724-45117725	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200768506	chr15:45117792-45117793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571862338	chr15:45117862-45117863	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371149753	chr15:45117973-45117974	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201755799	chr15:45118037-45118038	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200285507	chr15:45118039-45118040	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201222316	chr15:45118075-45118076	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28526450	chr15:45118134-45118135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151176319	chr15:45118151-45118152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193022620	chr15:45118162-45118163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141209575	chr15:45118164-45118165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201427758	chr15:45118167-45118168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199710364	chr15:45118169-45118170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2470926	chr15:45118261-45118262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537341272	chr15:45118359-45118360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550600085	chr15:45118362-45118363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184935428	chr15:45118413-45118414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201608646	chr15:45118444-45118445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79232366	chr15:45118482-45118483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9020	chr15:45118490-45118491	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs368260928	chr15:45118495-45118496	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs536370881	chr15:45118500-45118501	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs553016806	chr15:45118534-45118535	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199594326	chr15:45118545-45118546	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113520434	chr15:45118625-45118626	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45105800-45121600	Weak transcription	Fetal Intestine Small	intestine
2	chr15:45112000-45123000	Weak transcription	Esophagus	oesophagus
3	chr15:45112600-45120400	Weak transcription	Lung	lung
4	chr15:45113400-45119600	Weak transcription	Stomach Mucosa	stomach
5	chr15:45113600-45117200	Weak transcription	Liver	Liver
6	chr15:45113600-45117200	Weak transcription	HepG2	liver
7	chr15:45117000-45117400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:45117000-45117800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr15:45117200-45117400	Enhancers	Gastric	stomach
10	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:45117200-45117600	Enhancers	Liver	Liver
14	chr15:45117200-45120400	Enhancers	HepG2	liver
15	chr15:45117400-45120400	Weak transcription	Gastric	stomach
16	chr15:45117600-45119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:45117600-45119000	Weak transcription	Liver	Liver
18	chr15:45117600-45120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:45117600-45121800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:45117800-45118200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:45118200-45118400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr15:45118400-45118600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:45118400-45123000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:45118600-45120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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