Variant report

Variant	rs13254350
Chromosome Location	chr8:19933072-19933073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12114914	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12115038	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12541270	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543608	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12544152	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12544171	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12544475	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12544485	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12545849	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12548902	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548905	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12549165	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12549191	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12549417	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13251424	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13252698	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13253283	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13254929	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258187	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13261242	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263007	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13264064	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270968	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13282286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13282790	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1569210	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1569211	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1569212	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2898497	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34037978	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34214665	0.89[ASN][1000 genomes]
rs34292846	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34346317	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34538958	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34569632	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34575744	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34596363	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34825050	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34875285	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35001898	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35014088	0.92[ASN][1000 genomes]
rs35234854	0.89[ASN][1000 genomes]
rs35330363	0.92[ASN][1000 genomes]
rs35481807	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35620853	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35806919	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35892161	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs36124048	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4319113	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4341175	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4442164	0.89[ASN][1000 genomes]
rs4577974	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4922123	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55956142	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56119834	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62498166	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7015401	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7814176	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7833382	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7845015	0.87[AMR][1000 genomes];0.92[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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19931400-19933800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:19931400-19935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:19931600-19933200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:19931600-19936800	Enhancers	Placenta	Placenta
5	chr8:19931800-19933400	Weak transcription	Right Ventricle	heart
6	chr8:19931800-19934400	Enhancers	Adipose Nuclei	Adipose
7	chr8:19932000-19933600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:19932000-19934000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:19932200-19936600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr8:19932400-19933600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:19932400-19933800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:19932400-19937000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:19932800-19933800	Enhancers	Lung	lung
14	chr8:19932800-19934400	Enhancers	Left Ventricle	heart
15	chr8:19933000-19933200	Enhancers	Fetal Lung	lung
16	chr8:19933000-19933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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