Variant report

Variant	rs2414008
Chromosome Location	chr15:50339058-50339059
allele	A/G
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	GATA3	chr15:50338850-50339502	MCF-7	breast:	n/a	chr15:50339427-50339434 chr15:50339256-50339267
2	FOS	chr15:50339036-50339357	MCF10A-Er-Src	breast:	n/a	chr15:50339189-50339199 chr15:50339189-50339199 chr15:50339189-50339199
3	GATA3	chr15:50339018-50339620	SK-N-SH	brain:	n/a	chr15:50339427-50339434 chr15:50339256-50339267
4	GATA3	chr15:50339047-50339517	SH-SY5Y	brain:	n/a	chr15:50339427-50339434 chr15:50339256-50339267
5	GATA3	chr15:50338563-50339729	MCF-7	breast:	n/a	chr15:50339427-50339434 chr15:50339256-50339267
6	TCF12	chr15:50338995-50339507	SK-N-SH	brain:	n/a	n/a
7	GATA2	chr15:50339050-50339777	SH-SY5Y	brain:	n/a	chr15:50339754-50339763 chr15:50339427-50339434 chr15:50339256-50339267
8	GATA3	chr15:50338654-50339900	MCF-7	breast:	n/a	chr15:50339754-50339763 chr15:50339427-50339434 chr15:50339256-50339267
9	EP300	chr15:50339050-50339483	SK-N-SH_RA	brain:	n/a	chr15:50339143-50339157
10	GATA3	chr15:50338928-50339561	SK-N-SH	brain:	n/a	chr15:50339427-50339434 chr15:50339256-50339267
11	FOS	chr15:50339050-50339368	MCF10A-Er-Src	breast:	n/a	chr15:50339189-50339199 chr15:50339189-50339199 chr15:50339189-50339199

Variant related genes	Relation type
ATP8B4	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11070741	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12591825	0.92[GIH][hapmap];0.85[TSI][hapmap]
rs2413997	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414001	0.89[GIH][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs2414002	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2414004	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414005	1.00[CEU][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2414006	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28421519	0.82[AFR][1000 genomes]
rs4343223	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4550392	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4583186	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4627270	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6493393	0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6493394	0.85[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7165307	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7176999	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7177104	0.81[ASW][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap]
rs7179614	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7182041	0.92[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs8028408	0.85[EUR][1000 genomes]
rs8041014	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9302151	1.00[CEU][hapmap];0.94[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904207	chr15:50290295-50352945	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1530	chr15:50302524-50347616	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50321200-50343600	Weak transcription	Hela-S3	cervix
2	chr15:50327600-50339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:50335800-50343000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:50336600-50343200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:50337400-50341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:50337400-50347400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:50337800-50344200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:50338400-50340600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:50338400-50343400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr15:50338600-50343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:50338800-50339800	Enhancers	Osteobl	bone
12	chr15:50338800-50343800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:50339000-50339600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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