Variant report

Variant	nsv974565
Chromosome Location	chr15:43225638-43234039
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	ARID3A	chr15:43232723-43232915	HepG2	liver:	n/a	n/a
2	CEBPB	chr15:43227231-43227476	HepG2	liver:	n/a	n/a
3	CEBPB	chr15:43227180-43227475	MCF-7	breast:	n/a	n/a
4	ESR1	chr15:43225362-43225674	T-47D	breast:	n/a	chr15:43225542-43225557 chr15:43225542-43225559 chr15:43225541-43225558
5	ESR1	chr15:43225412-43225685	T-47D	breast:	n/a	chr15:43225542-43225557 chr15:43225542-43225559 chr15:43225541-43225558
6	ESR1	chr15:43225292-43225683	ECC-1	luminal epithelium:	n/a	chr15:43225542-43225557 chr15:43225542-43225559 chr15:43225541-43225558
7	ESR1	chr15:43225337-43225662	T-47D	breast:	n/a	chr15:43225542-43225557 chr15:43225542-43225559 chr15:43225541-43225558
8	ESR1	chr15:43225281-43225686	T-47D	breast:	n/a	chr15:43225542-43225557 chr15:43225542-43225559 chr15:43225541-43225558
9	FOS	chr15:43227216-43227406	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:43227269-43227465	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr15:43227027-43227539	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr15:43227048-43227542	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXA1	chr15:43225509-43225735	T-47D	breast:	n/a	n/a
14	FOXA1	chr15:43232691-43233191	HepG2	liver:	n/a	n/a
15	FOXA1	chr15:43232740-43233147	HepG2	liver:	n/a	n/a
16	FOXA1	chr15:43232811-43233030	HepG2	liver:	n/a	n/a
17	FOXA1	chr15:43225477-43225759	A549	lung:	n/a	n/a
18	FOXA1	chr15:43227268-43227415	T-47D	breast:	n/a	n/a
19	FOXA2	chr15:43232788-43233014	HepG2	liver:	n/a	n/a
20	GATA3	chr15:43227099-43227563	MCF-7	breast:	n/a	n/a
21	GATA3	chr15:43227052-43227532	MCF-7	breast:	n/a	n/a
22	JUND	chr15:43226570-43226803	HepG2	liver:	n/a	n/a
23	MAFF	chr15:43229611-43229820	K562	blood:	n/a	n/a
24	MAFK	chr15:43227526-43227623	HepG2	liver:	n/a	n/a
25	MAZ	chr15:43232665-43232769	HepG2	liver:	n/a	n/a
26	NR2F2	chr15:43226064-43226447	K562	blood:	n/a	n/a
27	POLR2A	chr15:43233242-43233276	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:43229221-43229280	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr15:43232562-43232599	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:43232611-43232685	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:43231622-43231668	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:43232427-43232539	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr15:43226181-43226361	K562	blood:	n/a	n/a
34	RCOR1	chr15:43229429-43229615	K562	blood:	n/a	n/a
35	RUNX3	chr15:43226164-43226419	GM12878	blood:	n/a	n/a
36	RUNX3	chr15:43226154-43226411	GM12878	blood:	n/a	n/a
37	STAT3	chr15:43227130-43227458	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr15:43227227-43227452	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr15:43228252-43228260	MCF10A-Er-Src	breast:	n/a	n/a
40	TAL1	chr15:43226200-43226379	K562	blood:	n/a	n/a
41	TEAD4	chr15:43226091-43226482	K562	blood:	n/a	n/a
42	TEAD4	chr15:43226132-43226429	K562	blood:	n/a	n/a
43	UBTF	chr15:43226458-43226509	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43227976..43230941-chr15:43258410..43260187,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM62-1	chr15:43232579-43233666	NONHSAT042051

Variant related genes	Relation type
FDPSP4	TF binding region

Extended variants
information (count: 279 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554992459	chr15:43225672-43225673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78086977	chr15:43225676-43225677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541156065	chr15:43225711-43225712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563992571	chr15:43225780-43225781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1551842	chr15:43225818-43225819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577789793	chr15:43225845-43225846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553332076	chr15:43225849-43225850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61279315	chr15:43225891-43225892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180743133	chr15:43225896-43225897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61198522	chr15:43225897-43225898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563583537	chr15:43225902-43225903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529245555	chr15:43225932-43225933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549293524	chr15:43226063-43226064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562091455	chr15:43226082-43226083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200803495	chr15:43226092-43226093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2016538	chr15:43226099-43226100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28535059	chr15:43226101-43226102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs190937586	chr15:43226132-43226133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533291856	chr15:43226267-43226268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139629434	chr15:43226388-43226389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540023951	chr15:43226416-43226417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146206315	chr15:43226442-43226443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550151176	chr15:43226510-43226511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144733572	chr15:43226553-43226554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113308865	chr15:43226647-43226648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555627130	chr15:43226667-43226668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147471606	chr15:43226703-43226704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534296828	chr15:43226710-43226711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2169581	chr15:43226766-43226767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs148534148	chr15:43226772-43226773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543494142	chr15:43226781-43226782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557238700	chr15:43226863-43226864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142838405	chr15:43226873-43226874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542976120	chr15:43226916-43226917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184036150	chr15:43226970-43226971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527704410	chr15:43226983-43226984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187320661	chr15:43226998-43226999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564498286	chr15:43227013-43227014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546650015	chr15:43227023-43227024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550229929	chr15:43227024-43227025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34931611	chr15:43227078-43227079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568559797	chr15:43227111-43227112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151031682	chr15:43227170-43227171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529412962	chr15:43227219-43227220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191764295	chr15:43227332-43227333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4244590	chr15:43227339-43227340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs141111379	chr15:43227360-43227361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557507318	chr15:43227409-43227410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571217710	chr15:43227460-43227461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372848202	chr15:43227465-43227466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43214800-43226400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:43222400-43236600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:43223600-43227400	Weak transcription	HepG2	liver
4	chr15:43223600-43238400	Weak transcription	Ovary	ovary
5	chr15:43225200-43225800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:43225200-43225800	Enhancers	HUVEC	blood vessel
7	chr15:43225200-43225800	Enhancers	NHEK	skin
8	chr15:43225400-43226400	Enhancers	HMEC	breast
9	chr15:43225400-43226800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:43225600-43227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:43225800-43226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:43225800-43227000	Weak transcription	NHEK	skin
13	chr15:43225800-43236000	Weak transcription	HUVEC	blood vessel
14	chr15:43225800-43247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:43226000-43242200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:43226200-43226400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:43226200-43226600	Enhancers	Primary hematopoietic stem cells	blood
18	chr15:43226400-43227600	Weak transcription	HMEC	breast
19	chr15:43226400-43228200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:43226400-43228200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:43226400-43235400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:43226600-43235400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:43226800-43233000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:43227000-43228200	Enhancers	NHEK	skin
25	chr15:43227400-43228000	Enhancers	HepG2	liver
26	chr15:43227400-43228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:43227600-43228200	Enhancers	HMEC	breast
28	chr15:43227800-43236800	Weak transcription	Fetal Kidney	kidney
29	chr15:43228000-43232200	Weak transcription	HepG2	liver
30	chr15:43228200-43235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:43228200-43236000	Weak transcription	HMEC	breast
32	chr15:43228200-43237200	Weak transcription	NHEK	skin
33	chr15:43228200-43242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:43228600-43229000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:43229000-43229200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:43229000-43229200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:43229200-43235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:43229200-43237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:43229400-43236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:43229800-43231600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:43229800-43231600	Weak transcription	Fetal Stomach	stomach
42	chr15:43229800-43235400	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:43229800-43235600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:43229800-43237400	Weak transcription	Brain Germinal Matrix	brain
45	chr15:43230000-43237400	Weak transcription	HSMMtube	muscle
46	chr15:43230200-43235400	Weak transcription	Fetal Lung	lung
47	chr15:43230200-43235400	Weak transcription	NH-A	brain
48	chr15:43230200-43236600	Weak transcription	Fetal Brain Female	brain
49	chr15:43230200-43237200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:43230200-43237400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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