Variant report

Variant	rs3020122
Chromosome Location	chr8:118012030-118012031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1001646	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1155178	0.91[JPT][hapmap]
rs12542825	0.96[CEU][hapmap]
rs13280848	0.83[ASN][1000 genomes]
rs1505525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857811	0.83[ASN][1000 genomes]
rs1995581	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2047963	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2047964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938863	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2938864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019879	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3019880	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019883	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3019885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3019886	0.93[CEU][hapmap]
rs3019890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3020119	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs3020121	0.98[EUR][1000 genomes]
rs4132473	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4242567	0.96[CEU][hapmap];0.96[EUR][1000 genomes]
rs4269571	0.96[CEU][hapmap]
rs4510896	0.96[CEU][hapmap]
rs6469667	0.96[CEU][hapmap]
rs6469669	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7009891	0.80[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7011188	0.80[CHB][hapmap]
rs7842705	0.96[CEU][hapmap]
rs9643113	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027920	chr8:117983619-118079816	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539732	chr8:117983619-118079816	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv6360	chr8:118005370-118030914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1800268	chr8:118007295-118021671	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118010400-118014400	Weak transcription	Fetal Heart	heart
2	chr8:118010600-118012200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:118011400-118012600	Enhancers	Stomach Smooth Muscle	stomach
4	chr8:118011600-118012600	Enhancers	Fetal Stomach	stomach
5	chr8:118011600-118012800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:118011600-118012800	Enhancers	Colon Smooth Muscle	Colon

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