Variant report

Variant	nsv9233
Chromosome Location	chr15:31749686-31752999
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	ATF2	chr15:31751038-31751815	GM12878	blood:	n/a	n/a
2	ATF2	chr15:31751192-31751725	GM12878	blood:	n/a	n/a
3	BATF	chr15:31751257-31751640	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:31751147-31751700	GM12878	blood:	n/a	n/a
5	BCLAF1	chr15:31751116-31751769	GM12878	blood:	n/a	n/a
6	BHLHE40	chr15:31751153-31751981	GM12878	blood:	n/a	n/a
7	CHD1	chr15:31751187-31751648	GM12878	blood:	n/a	n/a
8	CHD2	chr15:31751202-31751893	GM12878	blood:	n/a	n/a
9	CREB1	chr15:31749858-31750147	A549	lung:	n/a	n/a
10	CTCF	chr15:31750120-31750270	GM12875	blood:	n/a	n/a
11	CTCF	chr15:31751232-31751316	GM19239	blood:	n/a	n/a
12	CTCF	chr15:31749800-31749950	AG10803	skin:	n/a	n/a
13	CTCF	chr15:31749580-31749730	GM12866	blood:	n/a	n/a
14	E2F6	chr15:31750032-31750452	H1-hESC	embryonic stem cell:	n/a	n/a
15	EBF1	chr15:31751283-31751861	GM12878	blood:	n/a	n/a
16	EGR1	chr15:31751272-31751561	GM12878	blood:	n/a	chr15:31751433-31751447
17	EP300	chr15:31749564-31750139	A549	lung:	n/a	n/a
18	EP300	chr15:31751209-31752024	GM12878	blood:	n/a	n/a
19	EP300	chr15:31751175-31751945	GM12878	blood:	n/a	n/a
20	EP300	chr15:31751209-31751719	GM12878	blood:	n/a	n/a
21	FOS	chr15:31749515-31750128	MCF10A-Er-Src	breast:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
22	FOS	chr15:31751159-31751666	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr15:31751314-31751544	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr15:31749361-31750171	MCF10A-Er-Src	breast:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
25	FOS	chr15:31749362-31750168	MCF10A-Er-Src	breast:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
26	FOS	chr15:31749632-31750143	HUVEC	blood vessel:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
27	FOS	chr15:31751139-31751853	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr15:31751191-31751662	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr15:31749584-31750154	MCF10A-Er-Src	breast:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
30	FOSL1	chr15:31750132-31750543	H1-hESC	embryonic stem cell:	n/a	n/a
31	FOSL1	chr15:31750124-31750527	H1-hESC	embryonic stem cell:	n/a	n/a
32	FOSL2	chr15:31749702-31750085	A549	lung:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
33	FOSL2	chr15:31749161-31750248	A549	lung:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
34	FOXA2	chr15:31751111-31751538	A549	lung:	n/a	n/a
35	FOXA2	chr15:31749701-31750166	A549	lung:	n/a	n/a
36	FOXA2	chr15:31749819-31750079	A549	lung:	n/a	n/a
37	FOXM1	chr15:31751062-31751766	GM12878	blood:	n/a	n/a
38	FOXM1	chr15:31750030-31750389	GM12878	blood:	n/a	n/a
39	FOXM1	chr15:31751122-31751804	GM12878	blood:	n/a	n/a
40	IKZF1	chr15:31751105-31751786	GM12878	blood:	n/a	n/a
41	IRF4	chr15:31751158-31751641	GM12878	blood:	n/a	n/a
42	JUND	chr15:31749701-31750080	A549	lung:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
43	JUND	chr15:31749801-31750083	A549	lung:	n/a	chr15:31749997-31750005 chr15:31749995-31750007
44	MAFF	chr15:31749655-31749775	HepG2	liver:	n/a	chr15:31749681-31749699
45	MAFK	chr15:31749615-31749815	HepG2	liver:	n/a	chr15:31749685-31749699 chr15:31749686-31749697 chr15:31749794-31749809 chr15:31749682-31749698 chr15:31749682-31749697
46	MAX	chr15:31749019-31750228	A549	lung:	n/a	chr15:31749603-31749616 chr15:31749605-31749614 chr15:31749600-31749619 chr15:31749604-31749615
47	MAX	chr15:31749351-31749764	K562	blood:	n/a	chr15:31749603-31749616 chr15:31749605-31749614 chr15:31749600-31749619 chr15:31749604-31749615
48	MAX	chr15:31750109-31750466	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr15:31749528-31749728	K562	blood:	n/a	chr15:31749603-31749616 chr15:31749605-31749614 chr15:31749600-31749619 chr15:31749604-31749615
50	MAX	chr15:31749192-31750190	A549	lung:	n/a	chr15:31749603-31749616 chr15:31749605-31749614 chr15:31749600-31749619 chr15:31749604-31749615

No.	Distal block	Cell Line	Cell type
1	chr15:31748477..31753108-chr15:31776889..31783172,7	MCF-7	breast:
2	chr15:31747904..31750478-chr15:31754531..31757245,2	MCF-7	breast:
3	chr15:31731861..31735385-chr15:31748681..31751856,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259696	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531868754	chr15:31749721-31749722	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs57924788	chr15:31749722-31749723	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571722483	chr15:31749739-31749740	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551115094	chr15:31749757-31749758	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs146187063	chr15:31749781-31749782	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547534175	chr15:31749810-31749811	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187940806	chr15:31749814-31749815	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536787073	chr15:31749853-31749854	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs4238555	chr15:31749864-31749865	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4779528	chr15:31749878-31749879	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538911323	chr15:31749901-31749902	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs73368676	chr15:31749952-31749953	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs139056893	chr15:31749960-31749961	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs4779881	chr15:31749972-31749973	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149634049	chr15:31749976-31749977	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs574465283	chr15:31750040-31750041	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs543148011	chr15:31750044-31750045	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562923307	chr15:31750121-31750122	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35348999	chr15:31750126-31750127	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs532003084	chr15:31750127-31750128	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62037906	chr15:31750132-31750133	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76407877	chr15:31750161-31750162	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs527834798	chr15:31750181-31750182	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs547966779	chr15:31750222-31750223	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs193023828	chr15:31750223-31750224	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185708050	chr15:31750260-31750261	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs4779529	chr15:31750268-31750269	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147891528	chr15:31750287-31750288	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539045810	chr15:31750304-31750305	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs62037907	chr15:31750305-31750306	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs60524119	chr15:31750341-31750342	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs386782665	chr15:31750342-31750343	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs112300814	chr15:31750343-31750344	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs200802525	chr15:31750344-31750345	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs11629536	chr15:31750374-31750375	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs72724958	chr15:31750376-31750377	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556655587	chr15:31750385-31750386	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs145332826	chr15:31750398-31750399	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs189616056	chr15:31750436-31750437	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs192083748	chr15:31750478-31750479	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs559131560	chr15:31750505-31750506	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs28633343	chr15:31750629-31750630	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1824355	chr15:31750731-31750732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184632511	chr15:31750748-31750749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550259265	chr15:31750791-31750792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570168223	chr15:31750850-31750851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560551524	chr15:31750890-31750891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375372207	chr15:31750896-31750897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532702517	chr15:31750913-31750914	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs28421719	chr15:31750914-31750915	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31734400-31750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:31745800-31750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:31747000-31750800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:31748000-31751000	Weak transcription	Primary T cells from cord blood	blood
5	chr15:31748000-31751000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:31748200-31750400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr15:31748200-31750800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:31748200-31750800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:31748200-31750800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:31748200-31751000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr15:31748200-31751000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:31748400-31751800	Enhancers	A549	lung
13	chr15:31748600-31751600	Enhancers	Esophagus	oesophagus
14	chr15:31748600-31751800	Enhancers	NHEK	skin
15	chr15:31748600-31752000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:31748800-31750600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:31748800-31750600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:31748800-31750800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:31748800-31751000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr15:31748800-31751000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:31748800-31751200	Enhancers	Adipose Nuclei	Adipose
22	chr15:31748800-31751400	Enhancers	HSMM	muscle
23	chr15:31748800-31751400	Enhancers	HSMMtube	muscle
24	chr15:31749000-31749800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:31749000-31750000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:31749000-31750400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:31749000-31750600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr15:31749000-31750600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr15:31749000-31750600	Enhancers	NHLF	lung
30	chr15:31749000-31751800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:31749200-31749800	Bivalent Enhancer	HUVEC	blood vessel
32	chr15:31749200-31750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:31749200-31750200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr15:31749200-31750400	Enhancers	GM12878-XiMat	blood
35	chr15:31749200-31750600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:31749200-31751400	Enhancers	NH-A	brain
37	chr15:31749200-31752000	Enhancers	HMEC	breast
38	chr15:31749200-31753200	Weak transcription	Left Ventricle	heart
39	chr15:31749200-31764000	Weak transcription	Right Atrium	heart
40	chr15:31749400-31749800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:31749400-31749800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:31749400-31749800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr15:31749400-31751800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:31749600-31749800	Flanking Active TSS	Osteobl	bone
45	chr15:31749600-31750800	Weak transcription	Fetal Heart	heart
46	chr15:31749600-31751200	Enhancers	Primary B cells from cord blood	blood
47	chr15:31749600-31753200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:31749600-31753600	Enhancers	Primary B cells from peripheral blood	blood
49	chr15:31749800-31750200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr15:31749800-31751000	Weak transcription	Colonic Mucosa	Colon

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