Variant report

Variant	rs12589019
Chromosome Location	chr14:81112579-81112580
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10498547	0.93[ASN][1000 genomes]
rs11159470	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11159471	0.93[ASN][1000 genomes]
rs12161870	0.87[ASN][1000 genomes]
rs12589109	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17519	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1871458	0.98[ASN][1000 genomes]
rs34201956	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903927	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4903930	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4903931	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6574592	0.90[ASN][1000 genomes]
rs66523962	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7141390	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142417	0.90[ASN][1000 genomes]
rs71430713	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144036	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7144975	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7152126	0.91[ASN][1000 genomes]
rs7156452	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7158869	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7159302	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8003492	0.90[ASN][1000 genomes]
rs8006458	0.91[EUR][1000 genomes]
rs8007955	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008167	0.92[EUR][1000 genomes]
rs8013202	0.95[ASN][1000 genomes]
rs8018031	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv565290	chr14:81085129-81230117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81105400-81112800	Weak transcription	HSMM	muscle
2	chr14:81106200-81135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:81108200-81145800	Weak transcription	Fetal Thymus	thymus
4	chr14:81108600-81116800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:81110600-81124600	Weak transcription	Dnd41	blood
6	chr14:81110800-81124400	Weak transcription	Brain Substantia Nigra	brain
7	chr14:81112200-81112600	Enhancers	A549	lung
8	chr14:81112200-81112800	Enhancers	HepG2	liver
9	chr14:81112200-81112800	Enhancers	NHEK	skin
10	chr14:81112400-81112600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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