Variant report

Variant	rs72992201
Chromosome Location	chr3:143141447-143141448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10513199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11925776	1.00[AMR][1000 genomes]
rs16853508	1.00[AMR][1000 genomes]
rs16853511	1.00[AMR][1000 genomes]
rs16853527	1.00[AMR][1000 genomes]
rs16853529	1.00[AMR][1000 genomes]
rs34043464	1.00[AMR][1000 genomes]
rs57334336	1.00[AMR][1000 genomes]
rs57687610	1.00[AMR][1000 genomes]
rs58810476	1.00[AMR][1000 genomes]
rs72992119	1.00[AMR][1000 genomes]
rs72992127	1.00[AMR][1000 genomes]
rs72992177	1.00[AMR][1000 genomes]
rs72992193	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7610768	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS 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 target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1011088	chr3:143135891-143163169	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3464318	chr3:143141030-143142645	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3464319	chr3:143141030-143142645	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143100600-143142600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:143133200-143142800	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143137600-143142000	Weak transcription	Dnd41	blood
4	chr3:143139000-143145600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:143140000-143150000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:143140800-143142000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:143140800-143142600	Weak transcription	Fetal Thymus	thymus

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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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