Variant report

Variant	rs2784252
Chromosome Location	chr1:221062684-221062685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10495155	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11578466	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11580070	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11588625	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1572384	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2738751	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2738756	0.92[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2784250	0.90[EUR][1000 genomes]
rs2784254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2784273	0.92[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2807862	0.99[EUR][1000 genomes]
rs2807866	0.92[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3125046	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41369048	0.82[EUR][1000 genomes]
rs950635	0.99[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv1798350	chr1:221020278-221069740	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221060000-221063600	Weak transcription	NHLF	lung
2	chr1:221061200-221064600	Weak transcription	Spleen	Spleen
3	chr1:221061800-221062800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:221061800-221064600	Weak transcription	Pancreas	Pancrea
5	chr1:221062000-221065600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:221062200-221066200	Weak transcription	Colon Smooth Muscle	Colon

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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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