Variant report

Variant	rs6701025
Chromosome Location	chr1:221944721-221944722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11118849	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11118851	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11576121	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11582814	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12058360	0.88[EUR][1000 genomes]
rs56714236	1.00[ASN][1000 genomes]
rs57222604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58058349	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58969712	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59070710	1.00[ASN][1000 genomes]
rs60950693	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61696703	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668784	0.85[EUR][1000 genomes]
rs66916558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67225019	0.88[EUR][1000 genomes]
rs67299058	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72736571	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7549374	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv1007092	chr1:221883491-221958279	Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv535303	chr1:221883491-221958279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221933800-221945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:221939400-221945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:221939800-221945200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:221942800-221947400	Weak transcription	HUVEC	blood vessel
5	chr1:221944000-221945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:221944600-221947400	Enhancers	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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