Variant report

Variant	rs57034072
Chromosome Location	chr8:99728399-99728400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10447977	0.91[AMR][1000 genomes]
rs10755896	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10755897	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955188	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10955189	0.83[AMR][1000 genomes]
rs10955190	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11774463	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778767	0.84[ASN][1000 genomes]
rs11780292	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780369	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11780500	0.84[ASN][1000 genomes]
rs12542069	0.85[EUR][1000 genomes]
rs12542758	0.85[EUR][1000 genomes]
rs12547297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549803	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12550783	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679268	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12679734	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12680195	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12680490	0.88[EUR][1000 genomes]
rs12680602	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13269932	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13271844	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13275372	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13275915	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13279438	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1447245	0.80[AMR][1000 genomes]
rs1476181	0.85[AMR][1000 genomes]
rs1961744	0.88[AMR][1000 genomes]
rs2442011	0.82[EUR][1000 genomes]
rs2442012	0.87[AMR][1000 genomes]
rs2442013	0.81[EUR][1000 genomes]
rs2442014	0.87[AMR][1000 genomes]
rs2515214	0.86[AMR][1000 genomes]
rs2922066	0.80[AMR][1000 genomes]
rs2922073	0.88[AMR][1000 genomes]
rs2922074	0.88[AMR][1000 genomes]
rs2922075	0.81[AMR][1000 genomes]
rs2922076	0.88[AMR][1000 genomes]
rs2922078	0.81[AMR][1000 genomes]
rs2922081	0.81[AMR][1000 genomes]
rs2922084	0.80[AMR][1000 genomes]
rs3019290	0.85[AMR][1000 genomes]
rs3019291	0.85[AMR][1000 genomes]
rs3019293	0.81[AMR][1000 genomes]
rs34114299	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34281206	0.91[AMR][1000 genomes]
rs34366206	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34477118	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34855977	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35447893	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35536167	0.91[AMR][1000 genomes]
rs35798019	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35804297	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35915594	0.87[AMR][1000 genomes]
rs4131873	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4255105	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4279561	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4304299	0.87[AMR][1000 genomes]
rs4413739	0.86[AMR][1000 genomes]
rs4440607	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4509292	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4517094	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4541872	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4549741	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4562286	0.86[AMR][1000 genomes]
rs4612309	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4734410	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735568	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4735569	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735570	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735571	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735574	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58321500	0.84[ASN][1000 genomes]
rs62532565	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62532577	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62532587	0.86[AMR][1000 genomes]
rs62535381	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62535382	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62535383	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62535404	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62535408	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62535410	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62535412	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6651182	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6992925	0.83[ASN][1000 genomes]
rs7838239	0.85[ASN][1000 genomes]
rs9656842	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99676200-99738200	Weak transcription	Fetal Kidney	kidney
2	chr8:99683600-99738000	Weak transcription	NHEK	skin
3	chr8:99713200-99737600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:99723000-99738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:99723200-99736400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:99723200-99736400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:99723200-99738000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:99723200-99738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:99723200-99738200	Weak transcription	Lung	lung
10	chr8:99727400-99737400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:99728200-99757200	Weak transcription	Primary hematopoietic stem cells	blood

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