Variant report

Variant	esv2761871
Chromosome Location	chr15:45117411-45137994
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	ARID3A	chr15:45123098-45123535	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:45123189-45123508	K562	blood:	n/a	n/a
3	ARID3A	chr15:45125283-45125468	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:45128282-45128791	HepG2	liver:	n/a	n/a
5	ATF1	chr15:45123175-45123515	K562	blood:	n/a	n/a
6	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
7	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
9	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
10	BHLHE40	chr15:45118895-45119140	HepG2	liver:	n/a	n/a
11	BHLHE40	chr15:45128329-45128658	HepG2	liver:	n/a	chr15:45128479-45128495
12	CEBPB	chr15:45123438-45123599	K562	blood:	n/a	n/a
13	CEBPB	chr15:45124595-45124633	Hela-S3	cervix:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
14	CEBPB	chr15:45124457-45124788	HepG2	liver:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
15	CEBPB	chr15:45128277-45128615	HepG2	liver:	n/a	chr15:45128364-45128376
16	CEBPB	chr15:45128335-45128451	HepG2	liver:	n/a	chr15:45128364-45128376
17	CEBPB	chr15:45125287-45125585	HepG2	liver:	n/a	n/a
18	CEBPB	chr15:45128288-45128596	HepG2	liver:	n/a	chr15:45128364-45128376
19	CEBPB	chr15:45124470-45124753	K562	blood:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
20	CEBPB	chr15:45125369-45125612	HepG2	liver:	n/a	n/a
21	CHD2	chr15:45128477-45128490	HepG2	liver:	n/a	n/a
22	CTCF	chr15:45131340-45131490	NHEK	skin:	n/a	n/a
23	CTCF	chr15:45130247-45130298	GM10248	blood:	n/a	n/a
24	CTCF	chr15:45126500-45126650	K562	blood:	n/a	n/a
25	CTCF	chr15:45126580-45126730	GM12864	blood:	n/a	n/a
26	CTCF	chr15:45126620-45126770	HEK293	kidney:	n/a	n/a
27	CTCF	chr15:45131303-45131402	Lung_OC	lung:	n/a	n/a
28	CTCF	chr15:45126560-45126710	GM12872	blood:	n/a	n/a
29	CTCF	chr15:45126629-45126657	K562	blood:	n/a	n/a
30	CTCF	chr15:45126560-45126710	GM12874	blood:	n/a	n/a
31	CTCF	chr15:45126500-45126650	GM12875	blood:	n/a	n/a
32	CTCF	chr15:45126620-45126770	GM12874	blood:	n/a	n/a
33	CTCF	chr15:45120982-45121083	LNCaP	prostate:	n/a	n/a
34	CTCF	chr15:45126500-45126650	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr15:45126520-45126670	GM12867	blood:	n/a	n/a
36	CTCF	chr15:45126600-45126750	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr15:45131406-45131421	GM13977	blood:	n/a	n/a
38	CTCF	chr15:45131360-45131510	HRE	kidney:	n/a	n/a
39	CTCF	chr15:45130081-45130183	GM10248	blood:	n/a	n/a
40	CTCF	chr15:45126580-45126730	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr15:45126640-45126790	GM12871	blood:	n/a	n/a
42	CTCF	chr15:45134307-45134333	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr15:45131340-45131490	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr15:45131360-45131510	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr15:45126600-45126750	GM12872	blood:	n/a	n/a
46	CTCF	chr15:45126480-45126630	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr15:45131280-45131430	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr15:45126500-45126650	NB4	blood:	n/a	n/a
49	CTCF	chr15:45131274-45131456	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr15:45126660-45126810	HRE	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM69-1	chr15:45118738-45118965	ENSG00000259187.1
2	lnc-TRIM69-1	chr15:45119097-45119292	ENSG00000259187.1

Variant related genes	Relation type
ENSG00000259479	TF binding region
ENSG00000259187	TF binding region
ENSG00000238845	TF binding region

Extended variants
information (count: 924 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202129209	chr15:45117417-45117418	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546695227	chr15:45117427-45117428	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs117306665	chr15:45117456-45117457	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs528648040	chr15:45117461-45117462	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs139480833	chr15:45117463-45117464	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs202220798	chr15:45117701-45117702	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200547967	chr15:45117704-45117705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200701528	chr15:45117724-45117725	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200768506	chr15:45117792-45117793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571862338	chr15:45117862-45117863	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371149753	chr15:45117973-45117974	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201755799	chr15:45118037-45118038	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200285507	chr15:45118039-45118040	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs201222316	chr15:45118075-45118076	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs28526450	chr15:45118134-45118135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151176319	chr15:45118151-45118152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193022620	chr15:45118162-45118163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141209575	chr15:45118164-45118165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201427758	chr15:45118167-45118168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199710364	chr15:45118169-45118170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2470926	chr15:45118261-45118262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537341272	chr15:45118359-45118360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550600085	chr15:45118362-45118363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184935428	chr15:45118413-45118414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201608646	chr15:45118444-45118445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79232366	chr15:45118482-45118483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9020	chr15:45118490-45118491	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368260928	chr15:45118495-45118496	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs536370881	chr15:45118500-45118501	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs553016806	chr15:45118534-45118535	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199594326	chr15:45118545-45118546	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs113520434	chr15:45118625-45118626	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112299533	chr15:45118629-45118630	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs200686122	chr15:45118645-45118646	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs202031595	chr15:45118688-45118689	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs200168863	chr15:45118700-45118701	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs112514204	chr15:45118757-45118758	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs200438293	chr15:45118772-45118773	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs1669847	chr15:45118908-45118909	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs572962822	chr15:45118986-45118987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538779495	chr15:45119084-45119085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558473168	chr15:45119114-45119115	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs5001468	chr15:45119121-45119122	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs5001467	chr15:45119127-45119128	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560897565	chr15:45119158-45119159	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs574456737	chr15:45119164-45119165	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs150169106	chr15:45119192-45119193	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138638980	chr15:45119194-45119195	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs560246192	chr15:45119200-45119201	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs149310337	chr15:45119201-45119202	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

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	chr15:45117000-45117800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:45117200-45117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:45117200-45117600	Enhancers	Liver	Liver
10	chr15:45117200-45120400	Enhancers	HepG2	liver
11	chr15:45117400-45120400	Weak transcription	Gastric	stomach
12	chr15:45117600-45119000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:45117600-45119000	Weak transcription	Liver	Liver
14	chr15:45117600-45120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:45117600-45121800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:45117800-45118200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:45118200-45118400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr15:45118400-45118600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:45118400-45123000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:45118600-45120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:45119000-45119200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:45119000-45119400	Enhancers	Liver	Liver
23	chr15:45119200-45119600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:45119400-45120400	Weak transcription	Liver	Liver
25	chr15:45119600-45120200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:45119600-45120600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:45119600-45120800	Enhancers	Stomach Mucosa	stomach
28	chr15:45119800-45120400	Weak transcription	Dnd41	blood
29	chr15:45119800-45120600	Enhancers	Colonic Mucosa	Colon
30	chr15:45119800-45123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:45120200-45121200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:45120400-45120600	Enhancers	Gastric	stomach
33	chr15:45120400-45120800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:45120400-45120800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:45120400-45120800	Enhancers	Liver	Liver
36	chr15:45120400-45120800	Enhancers	Placenta	Placenta
37	chr15:45120400-45120800	Enhancers	Lung	lung
38	chr15:45120400-45120800	Genic enhancers	Dnd41	blood
39	chr15:45120400-45120800	Flanking Active TSS	HepG2	liver
40	chr15:45120400-45121800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:45120400-45122000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr15:45120400-45125200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:45120400-45128400	Weak transcription	Spleen	Spleen
44	chr15:45120600-45121000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr15:45120600-45121400	Weak transcription	Colonic Mucosa	Colon
46	chr15:45120600-45121400	Weak transcription	Gastric	stomach
47	chr15:45120600-45122000	Enhancers	Brain Cingulate Gyrus	brain
48	chr15:45120600-45124000	Enhancers	Pancreas	Pancrea
49	chr15:45120800-45121200	Weak transcription	Stomach Mucosa	stomach
50	chr15:45120800-45121400	Enhancers	Dnd41	blood

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