Variant report

Variant	rs17119338
Chromosome Location	chr1:85485192-85485193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10782538	1.00[CHB][hapmap]
rs11161516	1.00[CHB][hapmap]
rs17099213	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes]
rs17119333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17120570	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes]
rs1962897	0.85[EUR][1000 genomes]
rs41383647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41461649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4907127	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs55640042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55663547	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55814348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56314577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576745	1.00[CHB][hapmap]
rs6576747	1.00[CHB][hapmap]
rs6681402	1.00[CHB][hapmap]
rs6681619	1.00[CHB][hapmap]
rs6684766	1.00[CHB][hapmap]
rs6695223	1.00[CHB][hapmap]
rs6697585	0.84[CHB][hapmap];0.85[ASN][1000 genomes]
rs7517849	1.00[AMR][1000 genomes]
rs7529904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898035	1.00[CHB][hapmap]

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	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 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	chr1:85480800-85485400	Weak transcription	Fetal Intestine Large	intestine
2	chr1:85481800-85487200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:85482600-85485200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:85482600-85487600	Weak transcription	HMEC	breast
5	chr1:85483600-85494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:85483800-85488800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85485000-85485400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:85485000-85486000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:85485000-85486000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:85485000-85486400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:85485000-85486400	Strong transcription	Fetal Intestine Small	intestine

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