Variant report

Variant	rs12914978
Chromosome Location	chr15:78193032-78193033
allele	C/T
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	ZNF143	chr15:78192737-78193033	GM12878	blood:	n/a	chr15:78192837-78192855
2	CTCF	chr15:78192538-78193055	GM19238	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
3	CTCF	chr15:78192644-78193293	A549	lung:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
4	CTCF	chr15:78192900-78193050	GM12869	blood:	n/a	n/a
5	CTCF	chr15:78192920-78193070	AoAF	blood vessel:	n/a	n/a
6	CTCF	chr15:78192679-78193040	NHEK	skin:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
7	CTCF	chr15:78192550-78193091	A549	lung:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
8	PAX5	chr15:78192691-78193099	GM12878	blood:	n/a	n/a
9	POU2F2	chr15:78192581-78193204	GM12878	blood:	n/a	chr15:78192845-78192857
10	IRF4	chr15:78192634-78193034	GM12878	blood:	n/a	n/a
11	TEAD4	chr15:78192479-78193032	H1-hESC	embryonic stem cell:	n/a	n/a
12	PAX5	chr15:78192640-78193050	GM12878	blood:	n/a	n/a
13	CTCF	chr15:78192900-78193050	HCT-116	colon:	n/a	n/a
14	POLR2A	chr15:78192917-78193140	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr15:78192685-78193038	GM12878	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
16	CTCF	chr15:78192900-78193050	RPTEC	kidney:	n/a	n/a
17	CTCF	chr15:78192900-78193050	HCM	heart:	n/a	n/a
18	EBF1	chr15:78192893-78193177	GM12878	blood:	n/a	n/a
19	USF1	chr15:78193030-78193190	HepG2	liver:	n/a	chr15:78193125-78193136
20	CTCF	chr15:78192698-78193038	K562	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
21	CTCF	chr15:78192670-78193176	GM19239	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
22	CTCF	chr15:78192653-78193069	K562	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
23	EP300	chr15:78192980-78193099	GM12878	blood:	n/a	n/a
24	SP1	chr15:78192679-78193055	GM12878	blood:	n/a	chr15:78192849-78192861 chr15:78192844-78192856 chr15:78192845-78192854 chr15:78192850-78192860 chr15:78192850-78192859 chr15:78192851-78192860 chr15:78192844-78192856 chr15:78192845-78192855 chr15:78192851-78192860 chr15:78192849-78192861 chr15:78192846-78192855 chr15:78192845-78192855 chr15:78192841-78192855
25	CTCF	chr15:78192920-78193070	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr15:78192609-78193054	GM12891	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
27	CTCF	chr15:78192900-78193050	GM12868	blood:	n/a	n/a
28	CTCF	chr15:78192618-78193043	A549	lung:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
29	POLR2A	chr15:78192954-78193140	H1-hESC	embryonic stem cell:	n/a	n/a
30	NRF1	chr15:78192927-78193114	GM12878	blood:	n/a	chr15:78192974-78192985 chr15:78192974-78192983
31	CTCF	chr15:78192693-78193054	H1-hESC	embryonic stem cell:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
32	TEAD4	chr15:78192522-78193042	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr15:78192658-78193200	K562	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
34	CTCF	chr15:78192700-78193050	HCT-116	colon:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
35	RAD21	chr15:78192687-78193217	SK-N-SH	brain:	n/a	chr15:78192841-78192851 chr15:78192855-78192874
36	CTCF	chr15:78192940-78193090	HCM	heart:	n/a	n/a
37	CTCF	chr15:78192603-78193229	SK-N-SH	brain:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
38	CTCF	chr15:78192530-78193055	GM12892	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
39	CTCF	chr15:78192693-78193086	GM12878	blood:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
40	CTCF	chr15:78192671-78193055	MCF-7	breast:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
41	CTCF	chr15:78192900-78193050	NHDF-neo	bronchial:	n/a	n/a
42	RAD21	chr15:78192593-78193056	H1-hESC	embryonic stem cell:	n/a	chr15:78192841-78192851 chr15:78192855-78192874
43	CTCF	chr15:78192920-78193070	HCFaa	heart:	n/a	n/a
44	CTCF	chr15:78192682-78193054	H1-hESC	embryonic stem cell:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
45	MAX	chr15:78192823-78193107	GM12878	blood:	n/a	n/a
46	RAD21	chr15:78192700-78193101	HCT-116	colon:	n/a	chr15:78192841-78192851 chr15:78192855-78192874
47	CTCF	chr15:78192940-78193090	HAc	cerebellar:	n/a	n/a
48	CTCF	chr15:78192646-78193038	A549	lung:	n/a	chr15:78192858-78192874 chr15:78192838-78192847 chr15:78192852-78192873 chr15:78192835-78192848 chr15:78192857-78192875
49	BHLHE40	chr15:78192723-78193286	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75978476..75979174-chr15:78192448..78193224,3	MCF-7	breast:
2	chr15:75978451..75979139-chr15:78192424..78193254,5	MCF-7	breast:

Variant related genes	Relation type
CSPG4P13	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11072692	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072693	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072697	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072698	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072699	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072700	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1108478	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1109887	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1109888	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11638419	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11638589	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11858386	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904447	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12907649	0.82[ASN][1000 genomes]
rs12907928	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12908305	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12909806	0.84[ASN][1000 genomes]
rs12910046	0.81[ASN][1000 genomes]
rs12911075	0.85[ASN][1000 genomes]
rs12912453	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12913449	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12913473	0.86[ASN][1000 genomes]
rs12913714	0.81[ASN][1000 genomes]
rs12915969	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12915994	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12916128	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12916759	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12917382	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1574491	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806454	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28369222	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28523913	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34811851	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3902785	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4243065	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4300615	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4325520	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4493014	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4513058	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4575494	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4886537	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886538	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886539	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886540	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4886542	0.86[AMR][1000 genomes]
rs4886969	0.81[ASN][1000 genomes]
rs4886973	0.83[ASN][1000 genomes]
rs57630695	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57708464	0.86[AMR][1000 genomes]
rs58331113	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59711627	0.87[AMR][1000 genomes]
rs60003906	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60729630	0.81[ASN][1000 genomes]
rs60778112	0.81[ASN][1000 genomes]
rs6495263	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6495264	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67269215	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67630434	0.81[ASN][1000 genomes]
rs67793790	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7169893	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7170652	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73456876	0.83[AMR][1000 genomes]
rs7403009	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7403031	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7403151	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8024681	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8024765	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8025691	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8030318	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8030492	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036225	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8036976	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8039040	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039986	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv833062	chr15:78035206-78220358	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1046383	chr15:78153850-78229596	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv904428	chr15:78156238-78230906	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78180000-78215600	Weak transcription	Right Atrium	heart
2	chr15:78188400-78200400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:78190200-78195400	Weak transcription	Spleen	Spleen
4	chr15:78192000-78202800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:78192600-78193200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr15:78192600-78193600	Enhancers	Fetal Muscle Leg	muscle
7	chr15:78192800-78193200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:78192800-78193200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr15:78192800-78194200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:78193000-78193200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:78193000-78193200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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