Variant report

Variant	rs1260717
Chromosome Location	chr18:28568534-28568535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1260715	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260718	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1260720	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1260721	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1260722	0.85[CHB][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833613	chr18:28446454-28623599	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv909515	chr18:28556767-28584556	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv470414	chr18:28566665-28576533	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28566200-28572400	Weak transcription	Esophagus	oesophagus
2	chr18:28566200-28600600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:28566800-28569400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr18:28567200-28568600	Flanking Active TSS	NHEK	skin
5	chr18:28567200-28568800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:28567200-28568800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:28567200-28568800	Enhancers	HMEC	breast
8	chr18:28567400-28568800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr18:28567600-28569400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28567800-28568600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:28567800-28569400	Enhancers	Fetal Heart	heart
12	chr18:28567800-28571400	Weak transcription	K562	blood
13	chr18:28568400-28572200	Weak transcription	Placenta Amnion	Placenta Amnion

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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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