Variant report

Variant	nsv516913
Chromosome Location	chr15:40279581-40280693
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	chr15:40280054-40280260	HepG2	liver:	n/a	chr15:40280145-40280156
2	FOXA1	chr15:40279357-40279806	HepG2	liver:	n/a	n/a
3	FOXA1	chr15:40279367-40279750	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:40279293-40279714	HepG2	liver:	n/a	n/a
5	FOXA2	chr15:40279528-40279725	HepG2	liver:	n/a	n/a
6	MAFK	chr15:40280008-40280208	HepG2	liver:	n/a	n/a
7	MAFK	chr15:40280027-40280270	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
EIF2AK4	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7180126	chr15:40279581-40279582	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145516285	chr15:40279605-40279606	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147754133	chr15:40279630-40279631	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540587247	chr15:40279633-40279634	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185688718	chr15:40279652-40279653	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs577813266	chr15:40279662-40279663	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs543697298	chr15:40279701-40279702	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs562039485	chr15:40279745-40279746	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12592321	chr15:40279780-40279781	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs529063996	chr15:40279804-40279805	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs149212544	chr15:40279816-40279817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575400509	chr15:40279855-40279856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528606825	chr15:40279934-40279935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551755472	chr15:40279946-40279947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571615677	chr15:40279950-40279951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537093142	chr15:40279954-40279955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551241903	chr15:40280029-40280030	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs190495196	chr15:40280044-40280045	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558320996	chr15:40280072-40280073	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs56324718	chr15:40280073-40280074	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557672318	chr15:40280077-40280078	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370121471	chr15:40280079-40280080	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377547643	chr15:40280190-40280191	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs199883796	chr15:40280220-40280221	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370476691	chr15:40280227-40280228	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534415142	chr15:40280234-40280235	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201606949	chr15:40280244-40280245	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs375292990	chr15:40280247-40280248	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs377342428	chr15:40280248-40280249	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs370269120	chr15:40280268-40280269	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375456378	chr15:40280271-40280272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529440114	chr15:40280318-40280319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368789796	chr15:40280319-40280320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551206054	chr15:40280344-40280345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561955198	chr15:40280352-40280353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201409183	chr15:40280364-40280365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180949259	chr15:40280385-40280386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543080084	chr15:40280402-40280403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557194637	chr15:40280413-40280414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199723465	chr15:40280417-40280418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573868455	chr15:40280436-40280437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183490982	chr15:40280465-40280466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563852708	chr15:40280470-40280471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76856726	chr15:40280497-40280498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12912442	chr15:40280539-40280540	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545511384	chr15:40280597-40280598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565271762	chr15:40280616-40280617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530910143	chr15:40280649-40280650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12442731	chr15:40280693-40280694	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:69)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr15:40236600-40303000	Weak transcription	Small Intestine	intestine
4	chr15:40249000-40304800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr15:40250000-40294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:40250200-40299600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:40260800-40303400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:40262600-40293800	Weak transcription	Stomach Mucosa	stomach
9	chr15:40266400-40281800	Weak transcription	K562	blood
10	chr15:40269000-40284800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:40269000-40293200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:40269000-40293200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:40269200-40282000	Weak transcription	Esophagus	oesophagus
14	chr15:40269200-40283000	Weak transcription	Psoas Muscle	Psoas
15	chr15:40269400-40281600	Weak transcription	Colonic Mucosa	Colon
16	chr15:40269400-40283000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40269600-40282400	Weak transcription	Fetal Brain Male	brain
18	chr15:40269600-40295600	Weak transcription	Fetal Heart	heart
19	chr15:40269800-40285400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:40270400-40282400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr15:40276400-40295600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr15:40277600-40287400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:40277600-40288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:40277600-40288000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:40277600-40288400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:40277600-40294600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:40277600-40303600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:40277600-40303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:40277600-40304400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:40277800-40279600	Strong transcription	Aorta	Aorta
31	chr15:40277800-40279600	Strong transcription	Brain Angular Gyrus	brain
32	chr15:40277800-40279600	Strong transcription	Brain Hippocampus Middle	brain
33	chr15:40277800-40279600	Strong transcription	Colon Smooth Muscle	Colon
34	chr15:40277800-40279600	Strong transcription	Fetal Lung	lung
35	chr15:40277800-40279600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr15:40277800-40279800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:40277800-40279800	Strong transcription	Lung	lung
38	chr15:40277800-40281400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr15:40277800-40283800	Strong transcription	HUVEC	blood vessel
40	chr15:40277800-40284200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr15:40277800-40285800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr15:40277800-40286000	Strong transcription	Brain Anterior Caudate	brain
43	chr15:40277800-40286600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr15:40277800-40286600	Strong transcription	A549	lung
45	chr15:40277800-40286600	Strong transcription	Dnd41	blood
46	chr15:40277800-40286600	Strong transcription	HSMM	muscle
47	chr15:40277800-40286600	Strong transcription	NHDF-Ad	bronchial
48	chr15:40277800-40286600	Strong transcription	NHEK	skin
49	chr15:40277800-40286600	Strong transcription	Osteobl	bone
50	chr15:40277800-40286800	Strong transcription	Muscle Satellite Cultured Cells	--

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