Variant report

Variant	esv3356421
Chromosome Location	chr15:75268124-75270672
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	BATF	chr15:75269983-75270283	GM12878	blood:	n/a	n/a
2	CTCF	chr15:75268626-75268722	Pancreas_OC	pancreas:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
3	CTCF	chr15:75268600-75268750	WERI-Rb-1	eye:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
4	CTCF	chr15:75268621-75268759	Spleen_OC	spleen:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
5	CTCF	chr15:75268635-75268741	HUVEC	blood vessel:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
6	CTCF	chr15:75268520-75268670	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr15:75268482-75268930	A549	lung:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
8	CTCF	chr15:75268600-75268750	HEK293	kidney:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
9	CTCF	chr15:75268602-75268771	GM19239	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
10	CTCF	chr15:75268560-75268710	Hela-S3	cervix:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
11	CTCF	chr15:75268560-75268710	NHEK	skin:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
12	CTCF	chr15:75268603-75268782	LNCaP	prostate:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
13	CTCF	chr15:75268380-75268530	HMEC	breast:	n/a	n/a
14	CTCF	chr15:75268611-75268760	MCF-7	breast:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
15	CTCF	chr15:75268599-75268769	GM12891	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
16	CTCF	chr15:75268589-75268939	K562	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
17	CTCF	chr15:75268571-75268788	Hela-S3	cervix:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
18	CTCF	chr15:75268629-75268743	H1-hESC	embryonic stem cell:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
19	CTCF	chr15:75268540-75268690	K562	blood:	n/a	n/a
20	CTCF	chr15:75268620-75268770	GM12873	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
21	CTCF	chr15:75268640-75268790	RPTEC	kidney:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
22	CTCF	chr15:75268640-75268790	HMF	breast:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
23	CTCF	chr15:75268600-75268750	GM12872	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
24	CTCF	chr15:75268594-75268771	GM19238	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
25	CTCF	chr15:75268633-75268760	GM13976	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
26	CTCF	chr15:75268540-75268690	HMF	breast:	n/a	n/a
27	CTCF	chr15:75268599-75268763	HepG2	liver:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
28	CTCF	chr15:75268580-75268730	RPTEC	kidney:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
29	CTCF	chr15:75268598-75268787	GM10248	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
30	CTCF	chr15:75268560-75268710	A549	lung:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
31	CTCF	chr15:75268580-75268730	GM12872	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
32	CTCF	chr15:75268640-75268790	HRE	kidney:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
33	CTCF	chr15:75268560-75268710	AG09309	skin:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
34	CTCF	chr15:75268560-75268710	SAEC	small airway:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
35	CTCF	chr15:75268608-75268768	HepG2	liver:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
36	CTCF	chr15:75268600-75268750	BE2_C	brain:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
37	CTCF	chr15:75268580-75268730	HVMF	connective:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
38	CTCF	chr15:75268620-75268770	GM12866	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
39	CTCF	chr15:75268760-75268910	GM12864	blood:	n/a	n/a
40	CTCF	chr15:75268580-75268730	HRPEpiC	eye:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
41	CTCF	chr15:75268580-75268730	HPAF	blood vessel:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
42	CTCF	chr15:75268540-75268690	HPF	lung:	n/a	n/a
43	CTCF	chr15:75268577-75268803	MCF-7	breast:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
44	CTCF	chr15:75268680-75268830	AG10803	skin:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
45	CTCF	chr15:75268600-75268750	GM06990	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
46	CTCF	chr15:75268600-75268750	HEEpiC	esophagus:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
47	CTCF	chr15:75268595-75268759	K562	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
48	CTCF	chr15:75268560-75268710	GM12873	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
49	CTCF	chr15:75268600-75268750	GM12871	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700
50	CTCF	chr15:75268600-75268750	GM12873	blood:	n/a	chr15:75268685-75268693 chr15:75268682-75268700

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPP25-1	chr15:75268581-75268914	NONHSAT047282

Variant related genes	Relation type
ENSG00000261813	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555824630	chr15:75268226-75268227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549629480	chr15:75268279-75268280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567750508	chr15:75268290-75268291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575698725	chr15:75268310-75268311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556383017	chr15:75268340-75268341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577926304	chr15:75268354-75268355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544782119	chr15:75268355-75268356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192817900	chr15:75268398-75268399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572828540	chr15:75268446-75268447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529197538	chr15:75268475-75268476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144144838	chr15:75268527-75268528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553790704	chr15:75268583-75268584	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs146530940	chr15:75268584-75268585	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs544340488	chr15:75268627-75268628	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs544374171	chr15:75268653-75268654	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs185235576	chr15:75268718-75268719	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs532976070	chr15:75268741-75268742	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs551065541	chr15:75268771-75268772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs560786632	chr15:75268796-75268797	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs527952762	chr15:75268828-75268829	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs549604904	chr15:75268900-75268901	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs575998578	chr15:75268916-75268917	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567908308	chr15:75268925-75268926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148467776	chr15:75268929-75268930	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531804759	chr15:75268936-75268937	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577043386	chr15:75268983-75268984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190172705	chr15:75268993-75268994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372328906	chr15:75269009-75269010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7169797	chr15:75269021-75269022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376933633	chr15:75269037-75269038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559115123	chr15:75269045-75269046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571629662	chr15:75269049-75269050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184107979	chr15:75269070-75269071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539046607	chr15:75269074-75269075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563588547	chr15:75269090-75269091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553846836	chr15:75269091-75269092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71140126	chr15:75269092-75269093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566439285	chr15:75269102-75269103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188019204	chr15:75269112-75269113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374153437	chr15:75269123-75269124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180928414	chr15:75269140-75269141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186993567	chr15:75269196-75269197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192331277	chr15:75269224-75269225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111217937	chr15:75269234-75269235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182313518	chr15:75269238-75269239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369177623	chr15:75269249-75269250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186966634	chr15:75269252-75269253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191710943	chr15:75269263-75269264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182625871	chr15:75269264-75269265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28423020	chr15:75269277-75269278	Weak transcription	n/a	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
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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Epilepsy	22083797	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75257600-75270800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:75270000-75270200	Enhancers	HSMM	muscle
3	chr15:75270000-75270600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:75270000-75271200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:75270000-75271400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:75270000-75271400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:75270000-75271400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr15:75270000-75271400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:75270000-75271400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:75270000-75271400	Enhancers	NH-A	brain
11	chr15:75270000-75271400	Enhancers	NHDF-Ad	bronchial
12	chr15:75270000-75272000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:75270000-75272400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr15:75270200-75271600	Enhancers	Brain Hippocampus Middle	brain
15	chr15:75270200-75271600	Enhancers	Brain Substantia Nigra	brain
16	chr15:75270200-75272200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr15:75270200-75276200	Weak transcription	HSMM	muscle
18	chr15:75270600-75271400	Enhancers	A549	lung
19	chr15:75270600-75271600	Enhancers	Brain Cingulate Gyrus	brain
20	chr15:75270600-75272200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr15:75270600-75276200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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