Variant report

Variant	rs2165226
Chromosome Location	chr2:127409022-127409023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr2:127408574-127409073	K562	blood:	n/a	n/a
2	GATA2	chr2:127408544-127409063	K562	blood:	n/a	n/a
3	RCOR1	chr2:127408638-127409059	K562	blood:	n/a	n/a
4	GATA1	chr2:127408217-127409440	PBDE	blood:	n/a	n/a
5	CBX3	chr2:127408173-127409133	K562	blood:	n/a	n/a
6	CCNT2	chr2:127408586-127409053	K562	blood:	n/a	n/a
7	TAL1	chr2:127408610-127409056	K562	blood:	n/a	n/a
8	TEAD4	chr2:127408534-127409069	K562	blood:	n/a	n/a
9	GATA1	chr2:127408073-127409188	K562	blood:	n/a	n/a
10	TRIM28	chr2:127408517-127409130	K562	blood:	n/a	n/a
11	CBX3	chr2:127408527-127409062	K562	blood:	n/a	n/a
12	EP300	chr2:127408637-127409037	K562	blood:	n/a	n/a
13	ZNF143	chr2:127408607-127409093	K562	blood:	n/a	n/a
14	KAP1	chr2:127408456-127409275	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127406594..127410832-chr2:127413175..127415955,6	K562	blood:

No data

No data

No data

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10928978	0.85[ASN][1000 genomes]
rs10928979	0.88[ASN][1000 genomes]
rs12468467	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13008888	0.90[ASN][1000 genomes]
rs13395010	0.96[ASN][1000 genomes]
rs1550407	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1813402	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1960696	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2099732	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099733	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119151	0.96[ASN][1000 genomes]
rs2119152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404961	0.93[ASN][1000 genomes]
rs28387094	0.93[ASN][1000 genomes]
rs28387096	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811541	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6431169	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127406400-127410000	Enhancers	K562	blood
2	chr2:127406400-127412400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:127408000-127413000	Weak transcription	Aorta	Aorta

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dbSNP/dbVar ID: rs12345 /nsv7879
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