Variant report

Variant	rs12590078
Chromosome Location	chr14:41991155-41991156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:167600671..167603478-chr14:41990511..41992655,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10138559	0.84[ASN][1000 genomes]
rs10143349	0.89[ASN][1000 genomes]
rs10143445	0.89[ASN][1000 genomes]
rs1103438	0.83[ASN][1000 genomes]
rs11628212	0.92[ASN][1000 genomes]
rs12100476	0.82[ASN][1000 genomes]
rs12433487	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12436637	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12589362	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17112092	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1953700	0.87[ASN][1000 genomes]
rs1956446	0.84[ASN][1000 genomes]
rs1956447	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1959412	0.84[ASN][1000 genomes]
rs1959413	0.83[ASN][1000 genomes]
rs2415682	0.83[ASN][1000 genomes]
rs3985189	0.85[ASN][1000 genomes]
rs4479135	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58114965	0.81[ASN][1000 genomes]
rs59589366	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61990270	0.87[ASN][1000 genomes]
rs61990277	0.81[ASN][1000 genomes]
rs73309890	0.82[ASN][1000 genomes]
rs862478	0.83[ASN][1000 genomes]
rs862479	0.86[ASN][1000 genomes]
rs862480	0.83[ASN][1000 genomes]
rs862481	0.83[ASN][1000 genomes]
rs862482	0.83[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	nsv456224	chr14:41432350-42059281	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv564471	chr14:41432350-42059281	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1044831	chr14:41743218-41997018	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv542057	chr14:41743218-41997018	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1050985	chr14:41770445-42004827	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1043813	chr14:41845956-42005195	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3439155	chr14:41984251-42014049	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41991000-41991200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr14:41991000-41991400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:41991000-41991400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:41991000-41991400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:41991000-41991600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
6	chr14:41991000-41991600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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