Variant report

Variant	rs7547972
Chromosome Location	chr1:197176159-197176160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10494752	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10801597	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801598	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10801600	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10801601	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10801602	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10922181	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10922190	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10922197	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12022402	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12026252	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1337006	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1337007	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1337170	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1415210	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1415343	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1577802	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4915393	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4915453	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7418217	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7530522	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7548481	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7553508	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197171600-197181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:197171600-197181800	Weak transcription	Ovary	ovary
3	chr1:197171800-197179600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:197171800-197181400	Weak transcription	Fetal Heart	heart
5	chr1:197172200-197181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:197176000-197176800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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