Variant report

Variant	rs2593291
Chromosome Location	chr15:76078830-76078831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1060530	1.00[EUR][1000 genomes]
rs1809036	1.00[EUR][1000 genomes]
rs1811793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1816935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2604398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2604399	1.00[EUR][1000 genomes]
rs2604400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2604407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435793	1.00[EUR][1000 genomes]
rs28475197	1.00[EUR][1000 genomes]
rs28587208	1.00[EUR][1000 genomes]
rs28623414	1.00[EUR][1000 genomes]
rs28645324	1.00[EUR][1000 genomes]
rs28777723	1.00[EUR][1000 genomes]
rs3105362	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3106794	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59546376	1.00[EUR][1000 genomes]
rs8023631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8026030	1.00[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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
3	nsv974599	chr15:76033068-76101142	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv904397	chr15:76072030-76119092	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76075600-76085000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:76078400-76079200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr15:76078600-76079000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr15:76078600-76079000	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr15:76078600-76079200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr15:76078600-76079200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr15:76078600-76079200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:76078600-76083600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:76078800-76079000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:76078800-76079000	Bivalent Enhancer	Brain Germinal Matrix	brain
11	chr15:76078800-76079200	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr15:76078800-76079200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
13	chr15:76078800-76079200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:76078800-76079200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:76078800-76079200	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland

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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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