Variant report

Variant	rs2814762
Chromosome Location	chr1:159068326-159068327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2078724	1.00[ASN][1000 genomes]
rs2518561	1.00[ASN][1000 genomes]
rs2814756	1.00[ASN][1000 genomes]
rs2814765	1.00[ASN][1000 genomes]
rs2852721	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023736	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855873	1.00[ASN][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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3320754	chr1:159065987-159068394	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3320753	chr1:159066011-159068366	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3320755	chr1:159066011-159068366	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159066800-159068800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:159066800-159071800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:159067400-159071800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:159067400-159072200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:159067400-159073400	Weak transcription	Monocytes-CD14+_RO01746	blood

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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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