Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr14:72428558-72429071	GM12878	blood:	n/a	n/a
2	ATF2	chr14:72428583-72428998	GM12878	blood:	n/a	n/a
3	MEF2A	chr14:72428587-72429143	GM12878	blood:	n/a	n/a
4	NFIC	chr14:72428519-72429428	GM12878	blood:	n/a	n/a
5	EP300	chr14:72428623-72428993	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:72423860..72426368-chr14:72427413..72429540,3	MCF-7	breast:
2	chr14:72427443..72429272-chr14:72430391..72433116,2	MCF-7	breast:

Variant related genes	Relation type
RGS6	TF binding region
ENSG00000182732	Chromatin interaction

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10150071	0.89[ASN][1000 genomes]
rs10483837	0.90[CEU][hapmap]
rs12884777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12885258	0.90[CEU][hapmap]
rs12896825	0.90[CEU][hapmap]
rs17104979	0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs17105025	0.94[JPT][hapmap]
rs17105032	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs17105061	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs1860105	0.93[JPT][hapmap]
rs1989628	0.80[ASN][1000 genomes]
rs2067854	0.86[CEU][hapmap]
rs2190872	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2238274	0.94[JPT][hapmap]
rs2238275	0.93[JPT][hapmap]
rs2238276	0.93[JPT][hapmap]
rs2238278	0.86[ASN][1000 genomes]
rs2238283	0.84[JPT][hapmap]
rs2283422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2332701	0.87[ASN][1000 genomes]
rs2877774	0.86[CEU][hapmap]
rs35077074	0.83[ASN][1000 genomes]
rs35479711	0.84[ASN][1000 genomes]
rs4902960	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4902961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4902965	0.93[JPT][hapmap]
rs56661004	0.86[ASN][1000 genomes]
rs56731686	0.80[ASN][1000 genomes]
rs7143919	0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7156200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs720391	0.80[ASN][1000 genomes]
rs73293246	0.86[ASN][1000 genomes]
rs74060440	0.86[ASN][1000 genomes]
rs764624	0.93[JPT][hapmap]
rs764625	0.82[CEU][hapmap]
rs929444	0.86[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72425600-72430800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72425600-72431200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72426800-72437200	Weak transcription	Left Ventricle	heart
4	chr14:72427800-72430400	Enhancers	GM12878-XiMat	blood
5	chr14:72428400-72430000	Enhancers	Fetal Heart	heart
6	chr14:72428400-72430200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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