Variant report

Variant	rs12115038
Chromosome Location	chr8:19929781-19929782
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19927924..19930006-chr8:20054112..20056790,2	K562	blood:
2	chr8:19922124..19924701-chr8:19926606..19930260,4	K562	blood:
3	chr8:19928488..19931402-chr8:19934258..19936507,2	K562	blood:
4	chr8:19917481..19922077-chr8:19926619..19931502,5	K562	blood:
5	chr8:19869466..19870969-chr8:19928497..19931121,2	K562	blood:
6	chr8:19928488..19931156-chr8:19934258..19936000,2	K562	blood:

Variant related genes	Relation type
ENSG00000147416	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs12114914	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541270	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12543608	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12544152	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12544171	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12544475	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12544485	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12545849	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12548902	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548905	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549165	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12549191	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12549417	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13251424	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13252698	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13253283	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13254350	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13254929	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13258187	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13261242	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13263007	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13264064	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270968	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13282286	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13282790	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1569210	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1569211	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1569212	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2898497	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34037978	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34214665	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34292846	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34346317	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34538958	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34569632	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34575744	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34596363	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34825050	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34875285	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35001898	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs35014088	0.90[ASN][1000 genomes]
rs35234854	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35330363	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35481807	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35620853	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35806919	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35892161	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36124048	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4319113	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4341175	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4442164	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4577974	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4922123	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55956142	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56119834	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62498166	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015401	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7814176	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7833382	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7845015	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]

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	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19919600-19931600	Weak transcription	Lung	lung
2	chr8:19921600-19932200	Weak transcription	Left Ventricle	heart
3	chr8:19929400-19929800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:19929600-19930600	Active TSS	K562	blood

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