Variant report

Variant	rs17057959
Chromosome Location	chr13:38969457-38969458
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:19)

rs_ID	r²[population]
rs1344248	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16801	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1933369	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2485773	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2485775	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2496463	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2496464	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4586303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650362	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9315575	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9315576	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9532220	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9532221	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9548330	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548333	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9548334	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9548335	0.82[ASN][1000 genomes]
rs9576534	0.82[AMR][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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1041977	chr13:38962265-39002924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38968600-38970000	Enhancers	NHEK	skin
2	chr13:38968800-38969600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:38968800-38969800	Enhancers	Fetal Kidney	kidney
4	chr13:38968800-38970000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:38968800-38970000	Enhancers	HMEC	breast
6	chr13:38969000-38969600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:38969000-38969600	Weak transcription	NHDF-Ad	bronchial
8	chr13:38969000-38969800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:38969200-38969800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:38969200-38969800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:38969400-38969800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:38969400-38969800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:38969400-38969800	Flanking Active TSS	Hela-S3	cervix
14	chr13:38969400-38970000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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