Variant report

Variant	rs17545310
Chromosome Location	chr14:81471139-81471140
allele	A/C
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	chr14:81470968-81471182	K562	blood:	n/a	n/a
2	MAFK	chr14:81470963-81471278	K562	blood:	n/a	chr14:81471109-81471124 chr14:81471110-81471130 chr14:81471116-81471126 chr14:81471108-81471122 chr14:81471109-81471125 chr14:81471109-81471120 chr14:81471110-81471121 chr14:81471112-81471128 chr14:81471109-81471120 chr14:81471114-81471123
3	MAFK	chr14:81470938-81471293	HepG2	liver:	n/a	chr14:81471109-81471124 chr14:81471110-81471130 chr14:81471116-81471126 chr14:81471108-81471122 chr14:81471109-81471125 chr14:81471109-81471120 chr14:81471110-81471121 chr14:81471112-81471128 chr14:81471109-81471120 chr14:81471114-81471123
4	STAT3	chr14:81471039-81471277	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr14:81470940-81471300	HepG2	liver:	n/a	chr14:81471109-81471124 chr14:81471110-81471130 chr14:81471116-81471126 chr14:81471108-81471122 chr14:81471109-81471125 chr14:81471109-81471120 chr14:81471110-81471121 chr14:81471112-81471128 chr14:81471109-81471120 chr14:81471114-81471123
6	MAFK	chr14:81470956-81471286	IMR90	lung:	n/a	chr14:81471109-81471124 chr14:81471110-81471130 chr14:81471116-81471126 chr14:81471108-81471122 chr14:81471109-81471125 chr14:81471109-81471120 chr14:81471110-81471121 chr14:81471112-81471128 chr14:81471109-81471120 chr14:81471114-81471123
7	MAFF	chr14:81470973-81471292	K562	blood:	n/a	chr14:81471107-81471125 chr14:81471113-81471127
8	FOS	chr14:81471082-81471283	MCF10A-Er-Src	breast:	n/a	chr14:81471115-81471125 chr14:81471115-81471125 chr14:81471115-81471125 chr14:81471115-81471125
9	MAFF	chr14:81470958-81471294	HepG2	liver:	n/a	chr14:81471107-81471125 chr14:81471113-81471127

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81467255..81470490-chr14:81470537..81472087,4	K562	blood:

Variant related genes	Relation type
RPL17P3	TF binding region
ENSG00000271656	TF binding region
ENSG00000271656	Chromatin interaction
ENSG00000271705	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10141970	0.81[JPT][hapmap]
rs10142753	0.81[JPT][hapmap]
rs10149689	0.84[CHD][hapmap]
rs1016699	0.87[JPT][hapmap]
rs11625199	0.81[JPT][hapmap]
rs11627934	0.87[JPT][hapmap]
rs11845052	0.89[ASN][1000 genomes]
rs11850464	0.87[ASN][1000 genomes]
rs1197467	0.81[JPT][hapmap]
rs1197474	0.81[JPT][hapmap]
rs12050077	0.84[CHD][hapmap]
rs12050078	0.82[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap]
rs12050342	0.81[JPT][hapmap]
rs12050350	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs12050416	0.87[JPT][hapmap]
rs12433134	0.87[JPT][hapmap]
rs12434318	0.87[JPT][hapmap]
rs12437005	0.95[ASN][1000 genomes]
rs12437260	0.81[JPT][hapmap]
rs12896769	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs162174	0.81[JPT][hapmap]
rs170595	0.81[JPT][hapmap]
rs170596	0.81[JPT][hapmap]
rs17544968	0.89[ASN][1000 genomes]
rs17545038	0.89[ASN][1000 genomes]
rs17615020	0.81[JPT][hapmap]
rs179243	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs179249	0.84[ASN][1000 genomes]
rs179251	0.84[ASN][1000 genomes]
rs179257	0.86[ASN][1000 genomes]
rs1863766	0.81[JPT][hapmap]
rs1990597	0.90[ASN][1000 genomes]
rs2010847	0.81[JPT][hapmap]
rs2024427	0.88[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs2110696	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2195103	0.84[CHD][hapmap]
rs2217177	0.84[CHD][hapmap]
rs2268457	0.90[ASN][1000 genomes]
rs2268458	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2268460	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs228119	0.87[JPT][hapmap]
rs228122	0.81[JPT][hapmap]
rs2284718	0.85[ASN][1000 genomes]
rs2284719	0.85[ASN][1000 genomes]
rs2284720	0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs2284722	0.82[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2284727	0.88[ASN][1000 genomes]
rs2288347	0.81[JPT][hapmap]
rs2300521	0.81[ASN][1000 genomes]
rs2556607	0.87[JPT][hapmap]
rs2556611	0.81[JPT][hapmap]
rs2619661	0.81[JPT][hapmap]
rs28850656	0.87[JPT][hapmap]
rs2888032	0.81[JPT][hapmap]
rs327452	0.81[JPT][hapmap]
rs327454	0.81[JPT][hapmap]
rs328206	0.81[JPT][hapmap]
rs35472552	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783945	0.86[ASN][1000 genomes]
rs3783951	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4899780	0.87[JPT][hapmap]
rs4903949	0.81[JPT][hapmap]
rs4903957	0.82[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap]
rs4903958	0.82[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4903959	0.86[ASN][1000 genomes]
rs5002906	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs55945219	0.89[ASN][1000 genomes]
rs59431750	0.88[ASN][1000 genomes]
rs59711583	0.87[ASN][1000 genomes]
rs6574608	0.81[JPT][hapmap]
rs6574609	0.87[JPT][hapmap]
rs6574610	0.81[JPT][hapmap]
rs7140452	0.87[JPT][hapmap]
rs7157845	0.81[JPT][hapmap]
rs7158936	0.81[JPT][hapmap]
rs722906	0.81[JPT][hapmap]
rs724169	0.89[ASN][1000 genomes]
rs726020	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs72693057	0.85[ASN][1000 genomes]
rs72693068	0.87[ASN][1000 genomes]
rs72693069	0.87[ASN][1000 genomes]
rs72693070	0.87[ASN][1000 genomes]
rs72693072	0.87[ASN][1000 genomes]
rs72693073	0.87[ASN][1000 genomes]
rs72693075	0.87[ASN][1000 genomes]
rs72693078	0.88[ASN][1000 genomes]
rs72693080	0.88[ASN][1000 genomes]
rs72693090	0.89[ASN][1000 genomes]
rs72693093	0.88[ASN][1000 genomes]
rs72693096	0.89[ASN][1000 genomes]
rs74064796	0.87[ASN][1000 genomes]
rs759919	0.87[JPT][hapmap]
rs768359	0.87[JPT][hapmap]
rs8008366	0.81[JPT][hapmap]
rs8016507	0.81[JPT][hapmap]
rs917985	0.97[ASN][1000 genomes]
rs929630	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17545310	C14orf145	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81455800-81492200	Weak transcription	Fetal Thymus	thymus
2	chr14:81468000-81486600	Weak transcription	Thymus	Thymus
3	chr14:81468400-81472600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:81470400-81477200	Weak transcription	Dnd41	blood
5	chr14:81470800-81474800	Enhancers	K562	blood

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