Variant report

Variant	nsv570729
Chromosome Location	chr15:100002468-100015179
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	chr15:100012553-100012949	HepG2	liver:	n/a	n/a
2	CEBPB	chr15:100006896-100007207	HepG2	liver:	n/a	chr15:100007017-100007028
3	CEBPD	chr15:100011893-100012402	K562	blood:	n/a	n/a
4	CTCF	chr15:100008811-100009036	MCF-7	breast:	n/a	n/a
5	CTCF	chr15:100007060-100007210	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr15:100008770-100009111	MCF-7	breast:	n/a	n/a
7	CTCF	chr15:100008880-100009030	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:100007040-100007190	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr15:100008826-100009008	HepG2	liver:	n/a	n/a
10	CTCF	chr15:100007060-100007210	HCFaa	heart:	n/a	n/a
11	CTCF	chr15:100007160-100007310	HCPEpiC	choroid plexus:	n/a	chr15:100007287-100007300 chr15:100007288-100007298 chr15:100007270-100007278
12	CTCF	chr15:100010592-100010679	LNCaP	prostate:	n/a	n/a
13	CTCF	chr15:100007040-100007190	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr15:100007120-100007270	HCM	heart:	n/a	n/a
15	CTCF	chr15:100008887-100009007	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:100008891-100008972	MCF-7	breast:	n/a	n/a
17	CTCF	chr15:100008830-100009007	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:100008872-100008998	MCF-7	breast:	n/a	n/a
19	CTCF	chr15:100008820-100008970	HepG2	liver:	n/a	n/a
20	CTCF	chr15:100007406-100007513	MCF-7	breast:	n/a	n/a
21	CTCF	chr15:100008872-100008957	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr15:100008904-100008992	HepG2	liver:	n/a	n/a
23	CTCF	chr15:100007100-100007250	SAEC	small airway:	n/a	n/a
24	CTCF	chr15:100008857-100009023	K562	blood:	n/a	n/a
25	E2F4	chr15:100008398-100008625	MCF10A-Er-Src	breast:	n/a	n/a
26	ELF1	chr15:100014321-100014782	GM12878	blood:	n/a	n/a
27	ELK1	chr15:100004795-100004814	GM12878	blood:	n/a	n/a
28	EP300	chr15:100008282-100008556	SK-N-SH_RA	brain:	n/a	n/a
29	FOS	chr15:100008339-100008625	MCF10A-Er-Src	breast:	n/a	chr15:100008465-100008475 chr15:100008464-100008476 chr15:100008466-100008474 chr15:100008465-100008475
30	FOS	chr15:100008383-100008598	MCF10A-Er-Src	breast:	n/a	chr15:100008465-100008475 chr15:100008464-100008476 chr15:100008466-100008474 chr15:100008465-100008475
31	FOS	chr15:100008299-100008641	MCF10A-Er-Src	breast:	n/a	chr15:100008465-100008475 chr15:100008464-100008476 chr15:100008466-100008474 chr15:100008465-100008475
32	FOS	chr15:100008279-100008648	MCF10A-Er-Src	breast:	n/a	chr15:100008465-100008475 chr15:100008464-100008476 chr15:100008466-100008474 chr15:100008465-100008475
33	FOS	chr15:100006965-100007286	HUVEC	blood vessel:	n/a	n/a
34	FOSL2	chr15:100008226-100008652	SK-N-SH	brain:	n/a	chr15:100008465-100008475 chr15:100008464-100008476 chr15:100008466-100008474 chr15:100008465-100008475
35	FOXA1	chr15:100012598-100012996	HepG2	liver:	n/a	n/a
36	FOXA1	chr15:100012627-100012959	HepG2	liver:	n/a	n/a
37	FOXA1	chr15:100012625-100013027	HepG2	liver:	n/a	n/a
38	FOXA2	chr15:100012682-100012932	HepG2	liver:	n/a	n/a
39	FOXM1	chr15:100010374-100010722	GM12878	blood:	n/a	n/a
40	GATA2	chr15:100012192-100012397	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr15:100012211-100012388	SH-SY5Y	brain:	n/a	n/a
42	JUND	chr15:100008119-100008820	SK-N-SH	brain:	n/a	chr15:100008465-100008475 chr15:100008464-100008476 chr15:100008466-100008474 chr15:100008465-100008475
43	KAP1	chr15:100004370-100004789	HEK293	kidney:	n/a	n/a
44	MAFF	chr15:100014451-100014813	HepG2	liver:	n/a	chr15:100014623-100014641
45	MAFK	chr15:100014442-100014822	HepG2	liver:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014625-100014636 chr15:100014625-100014636 chr15:100014626-100014637
46	MAFK	chr15:100014316-100014822	IMR90	lung:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014390-100014406 chr15:100014391-100014405 chr15:100014625-100014636 chr15:100014388-100014408 chr15:100014394-100014404 chr15:100014625-100014636 chr15:100014626-100014637
47	MAFK	chr15:100014374-100014828	GM12878	blood:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014390-100014406 chr15:100014391-100014405 chr15:100014625-100014636 chr15:100014388-100014408 chr15:100014394-100014404 chr15:100014625-100014636 chr15:100014626-100014637
48	MAFK	chr15:100014498-100014769	H1-hESC	embryonic stem cell:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014625-100014636 chr15:100014625-100014636 chr15:100014626-100014637
49	MAFK	chr15:100014461-100014797	K562	blood:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014625-100014636 chr15:100014625-100014636 chr15:100014626-100014637
50	MAFK	chr15:100014305-100014823	HepG2	liver:	n/a	chr15:100014625-100014640 chr15:100014626-100014637 chr15:100014390-100014406 chr15:100014391-100014405 chr15:100014625-100014636 chr15:100014388-100014408 chr15:100014394-100014404 chr15:100014625-100014636 chr15:100014626-100014637

No.	Distal block	Cell Line	Cell type
1	chr15:99969769..99972522-chr15:100015171..100016752,2	MCF-7	breast:
2	chr15:100013320..100017207-chr15:100104527..100106980,4	MCF-7	breast:
3	chr15:100006765..100009301-chr15:100010187..100012699,3	K562	blood:
4	chr15:100000166..100003019-chr15:100025458..100027654,2	MCF-7	breast:
5	chr15:100010923..100013098-chr15:100015221..100016776,2	MCF-7	breast:
6	chr15:99991338..99992840-chr15:100014340..100017006,2	MCF-7	breast:
7	chr15:100005826..100008699-chr15:100011873..100013969,2	MCF-7	breast:
8	chr15:99994489..99997462-chr15:100005822..100007589,2	MCF-7	breast:
9	chr15:100005826..100008699-chr15:100011873..100013969,2	MCF-7	breast:
10	chr15:100009572..100011076-chr15:100104742..100106542,2	MCF-7	breast:
11	chr15:100006765..100009301-chr15:100010187..100012699,3	K562	blood:
12	chr15:99987398..99990235-chr15:100010575..100012559,2	MCF-7	breast:

Variant related genes	Relation type
MEF2A	TF binding region
ENSG00000068305	chromatin interactions
ENSG00000259341	chromatin interactions

Extended variants
information (count: 583 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1442643	chr15:100002468-100002469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544445494	chr15:100002469-100002470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182282719	chr15:100002488-100002489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556242984	chr15:100002495-100002496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369165107	chr15:100002550-100002551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568043940	chr15:100002567-100002568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551657619	chr15:100002568-100002569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566569182	chr15:100002575-100002576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535573990	chr15:100002665-100002666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553549628	chr15:100002677-100002678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4965507	chr15:100002688-100002689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115189017	chr15:100002746-100002747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545525699	chr15:100002778-100002779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567617719	chr15:100002801-100002802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538319400	chr15:100002819-100002820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11630522	chr15:100002864-100002865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139935923	chr15:100002871-100002872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539392435	chr15:100003003-100003004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370184356	chr15:100003069-100003070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558043455	chr15:100003117-100003118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572878791	chr15:100003125-100003126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10162745	chr15:100003165-100003166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143355154	chr15:100003196-100003197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148121783	chr15:100003211-100003212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7164527	chr15:100003249-100003250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544273726	chr15:100003332-100003333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28833551	chr15:100003335-100003336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192572888	chr15:100003352-100003353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577157076	chr15:100003391-100003392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7167309	chr15:100003407-100003408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560369656	chr15:100003447-100003448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146824089	chr15:100003488-100003489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76603417	chr15:100003508-100003509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567626585	chr15:100003513-100003514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76091664	chr15:100003514-100003515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148946557	chr15:100003539-100003540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143661918	chr15:100003620-100003621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370590139	chr15:100003629-100003630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539593891	chr15:100003637-100003638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185575313	chr15:100003677-100003678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566740148	chr15:100003678-100003679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534065361	chr15:100003712-100003713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555096805	chr15:100003793-100003794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573582401	chr15:100003838-100003839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114246737	chr15:100003841-100003842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556185649	chr15:100003843-100003844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10083662	chr15:100003930-100003931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs151024318	chr15:100003934-100003935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560295673	chr15:100003940-100003941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572431377	chr15:100003953-100003954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100001200-100006800	Weak transcription	Spleen	Spleen
2	chr15:100001200-100008200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:100001400-100007400	Weak transcription	Lung	lung
4	chr15:100006400-100007400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:100006600-100007200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:100006800-100007200	Enhancers	Spleen	Spleen
7	chr15:100006800-100007200	Enhancers	HUVEC	blood vessel
8	chr15:100007000-100007400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:100007200-100007400	Enhancers	NH-A	brain
10	chr15:100007200-100007600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:100007200-100007600	Enhancers	Right Atrium	heart
12	chr15:100007200-100007800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:100007200-100007800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr15:100007200-100012400	Weak transcription	Spleen	Spleen
15	chr15:100007400-100007600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:100007400-100007600	Enhancers	Lung	lung
17	chr15:100007400-100008000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr15:100007400-100009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:100007400-100012400	Weak transcription	NH-A	brain
20	chr15:100007600-100008200	Weak transcription	Lung	lung
21	chr15:100007600-100008200	Enhancers	Right Ventricle	heart
22	chr15:100007600-100009000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:100007800-100008400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:100007800-100012800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr15:100007800-100013000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:100008000-100008200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:100008000-100008800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:100008000-100013000	Weak transcription	Thymus	Thymus
29	chr15:100008000-100014400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:100008200-100008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:100008200-100008400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:100008200-100008400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:100008200-100008400	Enhancers	Lung	lung
34	chr15:100008200-100008400	Enhancers	Hela-S3	cervix
35	chr15:100008200-100008400	Enhancers	NHDF-Ad	bronchial
36	chr15:100008200-100008800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:100008200-100009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:100008200-100013000	Weak transcription	Right Ventricle	heart
39	chr15:100008200-100020600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:100008400-100013600	Weak transcription	Lung	lung
41	chr15:100008400-100016600	Weak transcription	Hela-S3	cervix
42	chr15:100008800-100014400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:100009600-100011600	Enhancers	Primary B cells from peripheral blood	blood
44	chr15:100009800-100011400	Enhancers	GM12878-XiMat	blood
45	chr15:100010000-100011200	Enhancers	Primary B cells from cord blood	blood
46	chr15:100010800-100012200	Enhancers	Fetal Heart	heart
47	chr15:100011400-100013000	Weak transcription	GM12878-XiMat	blood
48	chr15:100011600-100012800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr15:100012200-100012600	Flanking Active TSS	Fetal Heart	heart
50	chr15:100012200-100015800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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