Variant report

Variant	rs57478974
Chromosome Location	chr6:149478352-149478353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11155625	0.97[EUR][1000 genomes]
rs11756915	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191264	0.97[EUR][1000 genomes]
rs12191441	0.97[EUR][1000 genomes]
rs12196468	0.97[EUR][1000 genomes]
rs12196841	0.97[EUR][1000 genomes]
rs12197043	0.97[EUR][1000 genomes]
rs12198786	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12200486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210293	0.97[EUR][1000 genomes]
rs12210437	0.97[EUR][1000 genomes]
rs12210478	0.96[EUR][1000 genomes]
rs12212173	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12212622	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12216302	0.97[EUR][1000 genomes]
rs2069314	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28641142	0.97[EUR][1000 genomes]
rs35372633	0.97[EUR][1000 genomes]
rs35426452	0.97[EUR][1000 genomes]
rs3934770	0.97[EUR][1000 genomes]
rs3935038	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4283906	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4355632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385337	0.97[EUR][1000 genomes]
rs4415179	0.94[EUR][1000 genomes]
rs4495293	0.97[EUR][1000 genomes]
rs4544932	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4624897	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895779	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897081	0.92[EUR][1000 genomes]
rs4897082	0.94[EUR][1000 genomes]
rs4897083	0.93[EUR][1000 genomes]
rs4897084	0.93[EUR][1000 genomes]
rs4897087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5013008	0.97[EUR][1000 genomes]
rs55794530	0.97[EUR][1000 genomes]
rs55855829	0.96[EUR][1000 genomes]
rs55953746	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55991942	0.97[EUR][1000 genomes]
rs56260426	0.97[EUR][1000 genomes]
rs56328446	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396328	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56883363	0.96[EUR][1000 genomes]
rs56924759	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57292049	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57596511	0.96[EUR][1000 genomes]
rs57937779	0.97[EUR][1000 genomes]
rs58571272	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61228112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61462811	0.97[EUR][1000 genomes]
rs61660880	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62425896	0.97[EUR][1000 genomes]
rs6570942	0.92[EUR][1000 genomes]
rs6570943	0.92[EUR][1000 genomes]
rs6909824	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6934263	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7741894	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743161	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7749723	0.82[EUR][1000 genomes]
rs7749728	0.83[EUR][1000 genomes]
rs7767040	0.89[EUR][1000 genomes]
rs9377192	0.97[EUR][1000 genomes]
rs9386246	0.97[EUR][1000 genomes]
rs9390658	0.96[EUR][1000 genomes]
rs9688704	0.97[EUR][1000 genomes]
rs9766171	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034080	chr6:149456387-149480990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149476200-149487400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr6:149478200-149479600	Enhancers	HUES48 Cell Line	embryonic stem cell

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