Variant report

Variant	rs12865978
Chromosome Location	chr13:94041966-94041967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10507999	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12430561	1.00[CEU][hapmap]
rs12856377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12859238	0.97[EUR][1000 genomes]
rs12874252	1.00[CEU][hapmap]
rs12877939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408212	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1408213	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1408214	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17188928	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs34193955	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34377625	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34448529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35780256	0.97[EUR][1000 genomes]
rs66470909	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67774598	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67862730	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72639050	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323858	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7337108	0.97[EUR][1000 genomes]
rs7991595	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7992198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers 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
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916039	chr13:94035909-94191105	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94008800-94042400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:94039400-94042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:94041400-94047000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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