Variant report

Variant	nsv561493
Chromosome Location	chr13:37782714-37822869
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	chr13:37815553-37815753	HepG2	liver:	n/a	chr13:37815697-37815708
2	CEBPB	chr13:37789841-37790249	MCF-7	breast:	n/a	n/a
3	CTCF	chr13:37785498-37785541	LNCaP	prostate:	n/a	n/a
4	CTCF	chr13:37821301-37821316	ProgFib	skin:	n/a	n/a
5	CTCF	chr13:37808120-37808270	HPF	lung:	n/a	n/a
6	E2F4	chr13:37813335-37813459	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr13:37809770-37810018	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr13:37810364-37810380	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr13:37806037-37806346	SK-N-SH_RA	brain:	n/a	n/a
10	EP300	chr13:37783784-37784143	SK-N-SH_RA	brain:	n/a	chr13:37783955-37783964
11	FOS	chr13:37783927-37784088	MCF10A-Er-Src	breast:	n/a	chr13:37783954-37783965 chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
12	FOS	chr13:37799885-37800205	MCF10A-Er-Src	breast:	n/a	chr13:37800026-37800037 chr13:37800025-37800033 chr13:37800025-37800032 chr13:37800025-37800033
13	FOS	chr13:37801198-37801473	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr13:37783899-37784012	MCF10A-Er-Src	breast:	n/a	chr13:37783954-37783965 chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
15	FOS	chr13:37800005-37800066	MCF10A-Er-Src	breast:	n/a	chr13:37800026-37800037 chr13:37800025-37800033 chr13:37800025-37800032 chr13:37800025-37800033
16	FOS	chr13:37801174-37801552	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr13:37801175-37801561	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr13:37783802-37784133	HUVEC	blood vessel:	n/a	chr13:37783954-37783965 chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
19	FOS	chr13:37804171-37804364	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr13:37800085-37800093	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr13:37783909-37783988	MCF10A-Er-Src	breast:	n/a	chr13:37783954-37783965 chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
22	FOSL2	chr13:37801212-37801554	SK-N-SH	brain:	n/a	n/a
23	GATA2	chr13:37783802-37784097	HUVEC	blood vessel:	n/a	n/a
24	GATA3	chr13:37789690-37790257	MCF-7	breast:	n/a	chr13:37790021-37790037 chr13:37790021-37790037 chr13:37790024-37790034
25	GATA3	chr13:37789798-37790219	MCF-7	breast:	n/a	chr13:37790021-37790037 chr13:37790021-37790037 chr13:37790024-37790034
26	GATA3	chr13:37789710-37790236	MCF-7	breast:	n/a	chr13:37790021-37790037 chr13:37790021-37790037 chr13:37790024-37790034
27	GATA3	chr13:37783633-37784107	SK-N-SH	brain:	n/a	n/a
28	JUN	chr13:37783815-37783997	HepG2	liver:	n/a	chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
29	JUND	chr13:37783778-37784139	HepG2	liver:	n/a	chr13:37783954-37783965 chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
30	JUND	chr13:37783557-37784173	SK-N-SH	brain:	n/a	chr13:37783954-37783965 chr13:37783955-37783965 chr13:37783956-37783965 chr13:37783955-37783964 chr13:37783954-37783966
31	JUND	chr13:37818746-37818991	HepG2	liver:	n/a	n/a
32	MAFK	chr13:37801371-37801649	IMR90	lung:	n/a	n/a
33	MYC	chr13:37802484-37802651	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr13:37822247-37822283	H1-hESC	embryonic stem cell:	n/a	n/a
35	NR2F2	chr13:37789836-37790171	MCF-7	breast:	n/a	n/a
36	POLR2A	chr13:37822440-37822610	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr13:37788839-37788967	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr13:37784519-37784567	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr13:37800076-37800136	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr13:37794931-37795052	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr13:37820158-37820171	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr13:37793603-37793630	ProgFib	skin:	n/a	n/a
43	POLR2A	chr13:37803043-37803052	GM12878	blood:	n/a	n/a
44	POLR2A	chr13:37804099-37804299	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr13:37797210-37797323	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr13:37783713-37783942	ProgFib	skin:	n/a	n/a
47	POLR2A	chr13:37807395-37807507	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr13:37783519-37783525	MCF10A-Er-Src	breast:	n/a	n/a
49	RCOR1	chr13:37787160-37787196	GM12878	blood:	n/a	n/a
50	REST	chr13:37783797-37784083	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
RPS12P24	TF binding region

Extended variants
information (count: 1229 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2137589	chr13:37782714-37782715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542145476	chr13:37782726-37782727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561937076	chr13:37782747-37782748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563682879	chr13:37782790-37782791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149611202	chr13:37782824-37782825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547754003	chr13:37782845-37782846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531002766	chr13:37782847-37782848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570855388	chr13:37782854-37782855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368620600	chr13:37782855-37782856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78198302	chr13:37782883-37782884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144400479	chr13:37782908-37782909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570064973	chr13:37782909-37782910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371927622	chr13:37782942-37782943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564785732	chr13:37782965-37782966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536016171	chr13:37782979-37782980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2137588	chr13:37782991-37782992	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs191340427	chr13:37783019-37783020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114257322	chr13:37783051-37783052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558078962	chr13:37783128-37783129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528541999	chr13:37783131-37783132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576754334	chr13:37783195-37783196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545518452	chr13:37783219-37783220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562570033	chr13:37783240-37783241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375858007	chr13:37783249-37783250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542001110	chr13:37783280-37783281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148790513	chr13:37783320-37783321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547092694	chr13:37783324-37783325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527528882	chr13:37783350-37783351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568340392	chr13:37783352-37783353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369255717	chr13:37783430-37783431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541310092	chr13:37783475-37783476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564257534	chr13:37783658-37783659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533321566	chr13:37783687-37783688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182859589	chr13:37783725-37783726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549056839	chr13:37783740-37783741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187929490	chr13:37783790-37783791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369679777	chr13:37783828-37783829	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3908448	chr13:37783849-37783850	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76599151	chr13:37783862-37783863	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557283719	chr13:37783911-37783912	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190623759	chr13:37784018-37784019	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549107967	chr13:37784030-37784031	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565933052	chr13:37784114-37784115	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569127032	chr13:37784150-37784151	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558017404	chr13:37784156-37784157	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183555734	chr13:37784268-37784269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113679600	chr13:37784283-37784284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528196860	chr13:37784383-37784384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79910784	chr13:37784400-37784401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558924887	chr13:37784476-37784477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37773200-37783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr13:37777400-37783200	Weak transcription	NHDF-Ad	bronchial
3	chr13:37782000-37784600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:37782400-37782800	Enhancers	Osteobl	bone
5	chr13:37782600-37782800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:37782600-37785000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:37782600-37785200	Weak transcription	Hela-S3	cervix
8	chr13:37782800-37783400	Weak transcription	Osteobl	bone
9	chr13:37782800-37783800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:37783200-37784200	Enhancers	NHDF-Ad	bronchial
11	chr13:37783400-37784000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:37783400-37784000	Enhancers	Osteobl	bone
13	chr13:37783600-37783800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:37783600-37784000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:37783600-37784000	Enhancers	Aorta	Aorta
16	chr13:37783800-37784000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:37783800-37784200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:37783800-37784200	Enhancers	Fetal Muscle Leg	muscle
19	chr13:37783800-37784200	Enhancers	HUVEC	blood vessel
20	chr13:37784200-37784400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:37784200-37784600	Weak transcription	Fetal Muscle Leg	muscle
22	chr13:37784600-37786600	Enhancers	Fetal Muscle Leg	muscle
23	chr13:37785400-37786000	Enhancers	Fetal Muscle Trunk	muscle
24	chr13:37785800-37786200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:37785800-37786400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr13:37785800-37786400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:37786000-37790000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr13:37786600-37789800	Weak transcription	Fetal Muscle Leg	muscle
29	chr13:37788800-37789600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:37789600-37790000	Enhancers	Placenta	Placenta
31	chr13:37789800-37790400	Enhancers	Fetal Muscle Leg	muscle
32	chr13:37790000-37790400	Enhancers	Fetal Muscle Trunk	muscle
33	chr13:37795200-37800000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:37798800-37801800	Enhancers	Osteobl	bone
35	chr13:37799000-37799600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:37799000-37799600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:37799000-37799800	Enhancers	Aorta	Aorta
38	chr13:37799600-37800000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:37799600-37800200	Enhancers	NHLF	lung
40	chr13:37799600-37800400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:37799600-37800400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:37799600-37800400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:37799600-37800400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:37799600-37800400	Enhancers	HSMM	muscle
45	chr13:37799600-37800400	Enhancers	NH-A	brain
46	chr13:37799600-37800400	Enhancers	NHEK	skin
47	chr13:37799600-37801200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:37799600-37801600	Enhancers	HMEC	breast
49	chr13:37799600-37801800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr13:37799600-37801800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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