Variant report

Variant	rs2370026
Chromosome Location	chr1:192891048-192891049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10494676	1.00[EUR][1000 genomes]
rs10494677	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921281	0.83[EUR][1000 genomes]
rs10921284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076933	0.83[EUR][1000 genomes]
rs12087043	0.83[EUR][1000 genomes]
rs12531	1.00[CHD][hapmap]
rs16834924	0.83[EUR][1000 genomes]
rs16834945	0.89[EUR][1000 genomes]
rs1770915	1.00[CHD][hapmap]
rs1775687	1.00[CHD][hapmap]
rs56921005	0.94[EUR][1000 genomes]
rs58637690	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60641679	0.83[EUR][1000 genomes]
rs61394494	0.83[EUR][1000 genomes]
rs7523033	1.00[CEU][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs7530747	0.83[EUR][1000 genomes]
rs7542329	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192890000-192895200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:192890200-192891200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:192890200-192895200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:192891000-192891800	Enhancers	HSMMtube	muscle

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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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