Variant report

Variant	nsv976948
Chromosome Location	chr15:72425849-72428240
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	CEBPB	chr15:72427147-72427505	A549	lung:	n/a	n/a
2	CEBPB	chr15:72427163-72427503	MCF-7	breast:	n/a	n/a
3	CEBPB	chr15:72427137-72427501	MCF-7	breast:	n/a	n/a
4	CEBPB	chr15:72427343-72427576	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:72427347-72427573	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr15:72427338-72427565	A549	lung:	n/a	n/a
7	CTCF	chr15:72426080-72426230	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr15:72426112-72426232	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr15:72426075-72426299	GM12878	blood:	n/a	n/a
10	FOXA1	chr15:72427137-72427284	T-47D	breast:	n/a	chr15:72427206-72427221 chr15:72427189-72427204
11	FOXA2	chr15:72427057-72427448	A549	lung:	n/a	n/a
12	NFIC	chr15:72428137-72429086	ECC-1	luminal epithelium:	n/a	chr15:72428254-72428271
13	NFIC	chr15:72428078-72429149	ECC-1	luminal epithelium:	n/a	chr15:72428254-72428271
14	RCOR1	chr15:72427384-72427393	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72409540..72412383-chr15:72425883..72429173,3	MCF-7	breast:
2	chr15:72425861..72427575-chr15:72427612..72429350,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM202-4	chr15:72426982-72427777	NONHSAT047065

Variant related genes	Relation type
ENSG00000243568	TF binding region
ENSG00000243568	chromatin interactions
ENSG00000066933	chromatin interactions
ENSG00000166192	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539751679	chr15:72425889-72425890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs2957371	chr15:72425966-72425967	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573175158	chr15:72425976-72425977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184973508	chr15:72425981-72425982	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140913942	chr15:72425995-72425996	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553932642	chr15:72426036-72426037	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369240096	chr15:72426075-72426076	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572215899	chr15:72426137-72426138	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111401533	chr15:72426158-72426159	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs374583006	chr15:72426185-72426186	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561114058	chr15:72426186-72426187	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs190175298	chr15:72426228-72426229	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs561906836	chr15:72426249-72426250	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs574853468	chr15:72426351-72426352	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs145064143	chr15:72426359-72426360	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182658651	chr15:72426478-72426479	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532663783	chr15:72426487-72426488	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185393776	chr15:72426512-72426513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141027266	chr15:72426648-72426649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs115147207	chr15:72426649-72426650	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs111536682	chr15:72426704-72426705	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113774933	chr15:72426757-72426758	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567146700	chr15:72426772-72426773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs35909037	chr15:72426893-72426894	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537486535	chr15:72426932-72426933	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs555748066	chr15:72426947-72426948	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138653702	chr15:72426951-72426952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538365752	chr15:72426961-72426962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs192085137	chr15:72427014-72427015	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs572240777	chr15:72427051-72427052	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs542538064	chr15:72427076-72427077	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs554897924	chr15:72427099-72427100	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs74482196	chr15:72427128-72427129	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs576496400	chr15:72427133-72427134	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs543798992	chr15:72427153-72427154	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs565283711	chr15:72427158-72427159	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs532624544	chr15:72427201-72427202	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs541547584	chr15:72427243-72427244	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs559669008	chr15:72427274-72427275	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs530365702	chr15:72427280-72427281	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs548591536	chr15:72427284-72427285	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs372423969	chr15:72427285-72427286	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs141691121	chr15:72427375-72427376	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs183380990	chr15:72427391-72427392	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs143494375	chr15:72427414-72427415	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs4776585	chr15:72427442-72427443	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35983921	chr15:72427449-72427450	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs189082170	chr15:72427463-72427464	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs538332925	chr15:72427464-72427465	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs547499658	chr15:72427481-72427482	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Lung cancer	18438408	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	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
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72411400-72432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:72411600-72428000	Weak transcription	Left Ventricle	heart
3	chr15:72411600-72433800	Weak transcription	Fetal Intestine Small	intestine
4	chr15:72412200-72431800	Weak transcription	Psoas Muscle	Psoas
5	chr15:72421000-72431400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:72421200-72427800	Weak transcription	Fetal Kidney	kidney
7	chr15:72421800-72433000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:72422800-72427000	Weak transcription	HepG2	liver
9	chr15:72423600-72428200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:72423800-72432000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:72424800-72432000	Weak transcription	GM12878-XiMat	blood
12	chr15:72425800-72426000	Enhancers	A549	lung
13	chr15:72426000-72427000	Weak transcription	A549	lung
14	chr15:72426400-72432000	Weak transcription	Primary T cells from cord blood	blood
15	chr15:72426800-72436200	Weak transcription	Aorta	Aorta
16	chr15:72427000-72427400	Enhancers	Liver	Liver
17	chr15:72427000-72427400	Enhancers	HepG2	liver
18	chr15:72427000-72429200	Enhancers	A549	lung
19	chr15:72427400-72433800	Weak transcription	HepG2	liver
20	chr15:72427800-72428800	Enhancers	Fetal Kidney	kidney
21	chr15:72428000-72428400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:72428000-72428400	Enhancers	Left Ventricle	heart
23	chr15:72428000-72428400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr15:72428000-72429800	Enhancers	Fetal Lung	lung
25	chr15:72428200-72428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:72428200-72428400	Enhancers	Brain Anterior Caudate	brain
27	chr15:72428200-72428400	Enhancers	Pancreas	Pancrea
28	chr15:72428200-72428800	Enhancers	Fetal Stomach	stomach
29	chr15:72428200-72428800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr15:72428200-72430000	Enhancers	Rectal Mucosa Donor 31	rectum

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