Variant report

Variant	esv2753798
Chromosome Location	chr15:45100852-45145764
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	chr15:45125283-45125468	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:45123098-45123535	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:45145528-45145856	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:45128282-45128791	HepG2	liver:	n/a	n/a
5	ARID3A	chr15:45104072-45104613	HepG2	liver:	n/a	n/a
6	ARID3A	chr15:45123189-45123508	K562	blood:	n/a	n/a
7	ARID3A	chr15:45112947-45113068	K562	blood:	n/a	n/a
8	ATF1	chr15:45112841-45113209	K562	blood:	n/a	n/a
9	ATF1	chr15:45110150-45110343	K562	blood:	n/a	n/a
10	ATF1	chr15:45123175-45123515	K562	blood:	n/a	n/a
11	ATF1	chr15:45145566-45145860	K562	blood:	n/a	n/a
12	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
13	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
14	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
15	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
16	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
17	BCLAF1	chr15:45145496-45145860	GM12878	blood:	n/a	n/a
18	BHLHE40	chr15:45145577-45145857	K562	blood:	n/a	n/a
19	BHLHE40	chr15:45145583-45145886	GM12878	blood:	n/a	n/a
20	BHLHE40	chr15:45128329-45128658	HepG2	liver:	n/a	chr15:45128479-45128495
21	BHLHE40	chr15:45104198-45104487	HepG2	liver:	n/a	n/a
22	BHLHE40	chr15:45103724-45103810	K562	blood:	n/a	n/a
23	BHLHE40	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
24	BHLHE40	chr15:45118895-45119140	HepG2	liver:	n/a	n/a
25	BHLHE40	chr15:45112806-45113087	K562	blood:	n/a	n/a
26	BHLHE40	chr15:45111516-45111681	K562	blood:	n/a	n/a
27	BHLHE40	chr15:45116583-45116784	HepG2	liver:	n/a	n/a
28	BRCA1	chr15:45104298-45104346	HepG2	liver:	n/a	n/a
29	BRCA1	chr15:45103696-45103888	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr15:45109986-45110453	K562	blood:	n/a	n/a
31	CBX3	chr15:45145434-45145947	K562	blood:	n/a	n/a
32	CBX3	chr15:45112638-45113072	K562	blood:	n/a	n/a
33	CCNT2	chr15:45112959-45113171	K562	blood:	n/a	n/a
34	CEBPB	chr15:45125369-45125612	HepG2	liver:	n/a	n/a
35	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
36	CEBPB	chr15:45124595-45124633	Hela-S3	cervix:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
37	CEBPB	chr15:45124470-45124753	K562	blood:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
38	CEBPB	chr15:45105482-45105659	HepG2	liver:	n/a	chr15:45105603-45105614
39	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
40	CEBPB	chr15:45125287-45125585	HepG2	liver:	n/a	n/a
41	CEBPB	chr15:45105576-45105662	Hela-S3	cervix:	n/a	chr15:45105603-45105614
42	CEBPB	chr15:45128288-45128596	HepG2	liver:	n/a	chr15:45128364-45128376
43	CEBPB	chr15:45104265-45104426	HepG2	liver:	n/a	n/a
44	CEBPB	chr15:45124457-45124788	HepG2	liver:	n/a	chr15:45124613-45124624 chr15:45124612-45124623
45	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
46	CEBPB	chr15:45128335-45128451	HepG2	liver:	n/a	chr15:45128364-45128376
47	CEBPB	chr15:45123438-45123599	K562	blood:	n/a	n/a
48	CEBPB	chr15:45128277-45128615	HepG2	liver:	n/a	chr15:45128364-45128376
49	CHD2	chr15:45103589-45103982	K562	blood:	n/a	n/a
50	CHD2	chr15:45104288-45104514	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:
2	chr15:45002455..45004685-chr15:45109842..45111861,2	K562	blood:
3	chr15:45094810..45096971-chr15:45098706..45103803,4	K562	blood:
4	chr15:45098451..45101074-chr15:45104343..45106886,2	K562	blood:
5	chr15:45098451..45101074-chr15:45104343..45106886,2	K562	blood:

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
ENSG00000229474	chromatin interactions
ENSG00000166710	chromatin interactions

Extended variants
information (count: 1870 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1870 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7177310	chr15:45100852-45100853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138692520	chr15:45100860-45100861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531805953	chr15:45100897-45100898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115523069	chr15:45100903-45100904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141693217	chr15:45100920-45100921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527934776	chr15:45100921-45100922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552813346	chr15:45100964-45100965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527673573	chr15:45100978-45100979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547815425	chr15:45100985-45100986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12595376	chr15:45101006-45101007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189605845	chr15:45101007-45101008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539899785	chr15:45101018-45101019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75788759	chr15:45101035-45101036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112058986	chr15:45101049-45101050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12595395	chr15:45101051-45101052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192073346	chr15:45101112-45101113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115005633	chr15:45101142-45101143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184716119	chr15:45101146-45101147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560740701	chr15:45101164-45101165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs8037735	chr15:45101172-45101173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs8037994	chr15:45101224-45101225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557690992	chr15:45101230-45101231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577229784	chr15:45101233-45101234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543081259	chr15:45101261-45101262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189544442	chr15:45101313-45101314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576211623	chr15:45101334-45101335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78315475	chr15:45101339-45101340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562238172	chr15:45101353-45101354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527937258	chr15:45101457-45101458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541368718	chr15:45101478-45101479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12050491	chr15:45101508-45101509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533385458	chr15:45101521-45101522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375798527	chr15:45101545-45101546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181136708	chr15:45101573-45101574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570198556	chr15:45101597-45101598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184789553	chr15:45101609-45101610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549208732	chr15:45101637-45101638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565740913	chr15:45101660-45101661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534880331	chr15:45101661-45101662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550026869	chr15:45101668-45101669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189352851	chr15:45101669-45101670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138796317	chr15:45101675-45101676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149362935	chr15:45101704-45101705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144666272	chr15:45101834-45101835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36028992	chr15:45101836-45101837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4774611	chr15:45101861-45101862	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555886842	chr15:45101895-45101896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148594304	chr15:45101905-45101906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538224755	chr15:45101911-45101912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35099107	chr15:45101928-45101929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45081200-45103600	Weak transcription	Pancreas	Pancrea
2	chr15:45094600-45105400	Weak transcription	Fetal Heart	heart
3	chr15:45094800-45111600	Weak transcription	Right Atrium	heart
4	chr15:45100600-45101000	Enhancers	HepG2	liver
5	chr15:45101000-45102000	Weak transcription	HepG2	liver
6	chr15:45101400-45104800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:45102000-45103000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr15:45102000-45104200	Enhancers	HepG2	liver
9	chr15:45102000-45106200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:45102200-45102400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:45102200-45102400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:45102200-45104400	Enhancers	Duodenum Mucosa	Duodenum
13	chr15:45102200-45106200	Enhancers	Fetal Intestine Large	intestine
14	chr15:45102400-45102800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:45102400-45103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:45102600-45102800	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr15:45102600-45106400	Enhancers	Liver	Liver
18	chr15:45102800-45104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:45102800-45105800	Enhancers	Fetal Intestine Small	intestine
20	chr15:45102800-45106200	Enhancers	Stomach Mucosa	stomach
21	chr15:45102800-45106200	Enhancers	Dnd41	blood
22	chr15:45103000-45105000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:45103400-45104000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr15:45103400-45104400	Enhancers	Fetal Thymus	thymus
25	chr15:45103400-45104800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:45103400-45104800	Enhancers	HMEC	breast
27	chr15:45103400-45104800	Enhancers	K562	blood
28	chr15:45103600-45104600	Enhancers	Esophagus	oesophagus
29	chr15:45103600-45104800	Enhancers	Pancreas	Pancrea
30	chr15:45103800-45104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:45103800-45104600	Enhancers	NHEK	skin
32	chr15:45104000-45104200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr15:45104000-45104400	Enhancers	A549	lung
34	chr15:45104000-45104600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:45104200-45104600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:45104200-45104800	Enhancers	Gastric	stomach
37	chr15:45104200-45104800	Enhancers	Left Ventricle	heart
38	chr15:45104200-45104800	Flanking Active TSS	HepG2	liver
39	chr15:45104400-45104800	Active TSS	Duodenum Mucosa	Duodenum
40	chr15:45104600-45104800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr15:45104800-45105600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr15:45104800-45106200	Enhancers	Duodenum Mucosa	Duodenum
43	chr15:45104800-45106200	Enhancers	HepG2	liver
44	chr15:45104800-45109200	Weak transcription	K562	blood
45	chr15:45104800-45111200	Weak transcription	Left Ventricle	heart
46	chr15:45104800-45111400	Weak transcription	Pancreas	Pancrea
47	chr15:45104800-45111600	Weak transcription	Gastric	stomach
48	chr15:45105000-45106800	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr15:45105400-45105800	Enhancers	Fetal Muscle Leg	muscle
50	chr15:45105400-45106000	Enhancers	Fetal Heart	heart

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