Variant report

Variant	esv3362314
Chromosome Location	chr15:54551360-54556658
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	chr15:54553782-54553865	A549	lung:	n/a	n/a
2	E2F4	chr15:54554405-54554749	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr15:54551999-54552366	T-47D	breast:	n/a	n/a
4	MAFK	chr15:54551862-54552039	HepG2	liver:	n/a	chr15:54551945-54551956 chr15:54551944-54551960 chr15:54551944-54551955
5	MAX	chr15:54552031-54552034	NB4	blood:	n/a	n/a
6	SPI1	chr15:54556107-54556391	GM12891	blood:	n/a	chr15:54556279-54556292 chr15:54556277-54556286 chr15:54556280-54556293
7	SPI1	chr15:54556185-54556369	GM12891	blood:	n/a	chr15:54556279-54556292 chr15:54556277-54556286 chr15:54556280-54556293
8	SPI1	chr15:54556147-54556388	GM12878	blood:	n/a	chr15:54556279-54556292 chr15:54556277-54556286 chr15:54556280-54556293

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54553109..54555656-chr15:54556214..54557724,2	MCF-7	breast:

Variant related genes	Relation type
UNC13C	TF binding region
ENSG00000137766	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573163008	chr15:54551375-54551376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376402613	chr15:54551378-54551379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57282723	chr15:54551380-54551381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192566704	chr15:54551393-54551394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146246634	chr15:54551404-54551405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182732584	chr15:54551406-54551407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564560329	chr15:54551425-54551426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577970047	chr15:54551428-54551429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186680419	chr15:54551430-54551431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74365872	chr15:54551431-54551432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117130103	chr15:54551435-54551436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376629380	chr15:54551527-54551528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11638408	chr15:54551532-54551533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562954602	chr15:54551578-54551579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531905809	chr15:54551585-54551586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550406466	chr15:54551605-54551606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570484790	chr15:54551695-54551696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539100252	chr15:54551729-54551730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191339293	chr15:54551796-54551797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183920598	chr15:54551798-54551799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535765716	chr15:54551826-54551827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189425188	chr15:54551827-54551828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555673855	chr15:54551893-54551894	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553641654	chr15:54551902-54551903	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143668563	chr15:54551903-54551904	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs193298937	chr15:54551913-54551914	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs138018177	chr15:54551968-54551969	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs184977108	chr15:54551980-54551981	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs578047583	chr15:54552063-54552064	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372082218	chr15:54552070-54552071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199743740	chr15:54552128-54552129	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs34057643	chr15:54552129-54552130	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368643547	chr15:54552130-54552131	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs560100895	chr15:54552152-54552153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs566117352	chr15:54552171-54552172	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573663341	chr15:54552224-54552225	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs190268528	chr15:54552229-54552230	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563149254	chr15:54552234-54552235	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs531821237	chr15:54552242-54552243	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551938738	chr15:54552260-54552261	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs142501738	chr15:54552268-54552269	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs181138407	chr15:54552270-54552271	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs533035684	chr15:54552296-54552297	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11638873	chr15:54552302-54552303	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs554533478	chr15:54552319-54552320	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs113915886	chr15:54552329-54552330	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs575975411	chr15:54552338-54552339	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs528849294	chr15:54552443-54552444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11629837	chr15:54552474-54552475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569127505	chr15:54552564-54552565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54519000-54554400	Weak transcription	Aorta	Aorta
2	chr15:54547000-54652600	Weak transcription	Fetal Lung	lung
3	chr15:54551400-54551600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:54552200-54552400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:54553400-54553600	Enhancers	A549	lung
6	chr15:54556200-54556400	Enhancers	Aorta	Aorta

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