Variant report

Variant	rs211742
Chromosome Location	chr1:76007895-76007896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:76007889-76007963	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75887927..75890320-chr1:76006872..76008474,2	K562	blood:

Variant related genes	Relation type
RNU6-503P	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1265895	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs169831	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1739901	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182412	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190026	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211674	0.88[EUR][1000 genomes]
rs211677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs211698	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211741	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211743	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211763	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211765	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211767	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211768	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs378926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs388870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs405409	0.87[EUR][1000 genomes]
rs408340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs417652	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs431959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6593582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9324206	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830270	chr1:76002220-76033156	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 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	chr1:76000000-76008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76007200-76008800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:76007600-76008600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:76007800-76010000	Enhancers	HUVEC	blood vessel

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