Variant report

Variant	rs269088
Chromosome Location	chr1:112601956-112601957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17029299	1.00[MEX][hapmap]
rs269081	1.00[EUR][1000 genomes]
rs269086	1.00[EUR][1000 genomes]
rs269089	1.00[EUR][1000 genomes]
rs269113	1.00[ASN][1000 genomes]
rs3008537	1.00[MEX][hapmap]
rs388977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136520	1.00[ASN][1000 genomes]
rs56210502	1.00[ASN][1000 genomes]
rs56293311	1.00[ASN][1000 genomes]
rs593260	1.00[MEX][hapmap]

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	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv831059	chr1:112569062-112724725	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831070	chr1:112594658-112792539	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:112596400-112603400	Weak transcription	Right Atrium	heart
2	chr1:112597400-112607000	Weak transcription	Spleen	Spleen
3	chr1:112599400-112604000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:112599600-112603800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:112600200-112603600	Enhancers	NHEK	skin
6	chr1:112600400-112605200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:112600600-112602400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:112600600-112602400	Weak transcription	Left Ventricle	heart
9	chr1:112600600-112605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:112601000-112606000	Weak transcription	Right Ventricle	heart
11	chr1:112601200-112606200	Enhancers	HMEC	breast
12	chr1:112601600-112602400	Enhancers	Fetal Heart	heart
13	chr1:112601800-112605000	Enhancers	Esophagus	oesophagus

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Input of quick search could be:

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

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