Variant report

Variant	rs12891144
Chromosome Location	chr14:79945552-79945553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10130216	0.83[ASN][1000 genomes]
rs10483921	0.85[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11848580	0.90[JPT][hapmap]
rs12881194	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12888258	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12894675	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1317720	0.92[CEU][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes]
rs17758297	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs17758369	0.92[CEU][hapmap];0.82[GIH][hapmap];0.80[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17758381	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2003615	0.96[CEU][hapmap];0.92[MEX][hapmap];0.83[EUR][1000 genomes]
rs2003616	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs2007924	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2043588	0.92[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs34713513	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34765073	0.86[EUR][1000 genomes]
rs35086482	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243664	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4640109	0.81[ASN][1000 genomes]
rs4903859	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4903860	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56034924	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56209900	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61295692	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61995162	0.94[ASN][1000 genomes]
rs7140201	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7142987	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs736641	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8012110	0.88[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	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	chr14:79940200-79950000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:79942800-79949200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:79945400-79945600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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