Variant report

Variant	rs413613
Chromosome Location	chr1:179223115-179223116
allele	A/G
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	POLR2A	chr1:179223003-179223161	K562	blood:	n/a	n/a
2	TEAD4	chr1:179222380-179223190	K562	blood:	n/a	n/a
3	GATA2	chr1:179222830-179223136	K562	blood:	n/a	n/a
4	GATA2	chr1:179222795-179223170	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179217194..179219065-chr1:179221388..179223980,2	K562	blood:

Variant related genes	Relation type
COX5BP8	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1078872	0.92[ASN][1000 genomes]
rs10913692	0.81[EUR][1000 genomes]
rs10913693	0.82[EUR][1000 genomes]
rs12132572	0.81[ASN][1000 genomes]
rs1763022	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1807916	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1826183	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2050923	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066279	0.88[ASN][1000 genomes]
rs2130576	0.88[ASN][1000 genomes]
rs2171958	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306941	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2486998	0.85[EUR][1000 genomes]
rs2487563	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2636265	0.88[ASN][1000 genomes]
rs2636272	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2636277	0.88[EUR][1000 genomes]
rs2636280	0.84[ASN][1000 genomes]
rs2636282	0.88[ASN][1000 genomes]
rs2636291	0.83[EUR][1000 genomes]
rs2791936	0.88[EUR][1000 genomes]
rs2791944	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2791945	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2793790	0.88[EUR][1000 genomes]
rs2793794	0.87[EUR][1000 genomes]
rs2793800	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2793801	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793802	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2793803	0.90[ASN][1000 genomes]
rs2793810	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2793812	0.84[ASN][1000 genomes]
rs2793813	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2816166	0.85[EUR][1000 genomes]
rs2816168	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2816184	0.88[EUR][1000 genomes]
rs2816191	0.89[EUR][1000 genomes]
rs2816197	0.84[ASN][1000 genomes]
rs2816198	0.84[ASN][1000 genomes]
rs2816199	0.84[ASN][1000 genomes]
rs2816200	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2816201	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2816202	0.84[ASN][1000 genomes]
rs2816203	0.84[ASN][1000 genomes]
rs2816204	0.84[ASN][1000 genomes]
rs2816207	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2816208	0.88[ASN][1000 genomes]
rs2816211	0.88[ASN][1000 genomes]
rs2816212	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2816214	0.88[ASN][1000 genomes]
rs2816218	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3121198	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3122376	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs377785	0.92[ASN][1000 genomes]
rs3829794	0.82[EUR][1000 genomes]
rs411266	0.92[ASN][1000 genomes]
rs434283	0.92[ASN][1000 genomes]
rs451088	0.92[ASN][1000 genomes]
rs915337	0.92[ASN][1000 genomes]
rs9286921	0.84[EUR][1000 genomes]
rs9425839	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9662858	0.81[EUR][1000 genomes]
rs9729129	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179218600-179225600	Weak transcription	Spleen	Spleen
2	chr1:179222400-179223600	Enhancers	NH-A	brain

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