Variant report

Variant	rs742127
Chromosome Location	chr1:169564167-169564168
allele	C/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	NFYB	chr1:169563892-169564172	GM12878	blood:	n/a	n/a
2	PAX5	chr1:169563594-169564191	GM12878	blood:	n/a	n/a
3	RELA	chr1:169563604-169564189	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:169562439..169565344-chr1:169568413..169571209,3	K562	blood:
2	chr1:169553531..169554398-chr1:169563651..169564307,2	MCF-7	breast:
3	chr1:169564132..169566509-chr1:169578988..169581892,2	K562	blood:

Variant related genes	Relation type
SELP	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10919192	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10919193	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11587922	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12402407	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12402701	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12403625	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12406092	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12567645	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17521545	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1894700	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1894702	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2040442	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2187954	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2213870	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2213871	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2213872	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2213873	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2223303	0.90[AFR][1000 genomes]
rs2227245	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2236869	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236870	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2236871	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2239854	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2298903	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298905	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2298907	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2420378	0.83[AFR][1000 genomes]
rs34580812	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35852972	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766119	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3766120	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766121	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3766126	0.90[AFR][1000 genomes]
rs3820061	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3917750	0.87[AFR][1000 genomes]
rs3917777	0.86[AFR][1000 genomes]
rs3917854	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4268401	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4656692	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4656693	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4656694	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4656695	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6028	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61805771	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61805772	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6662176	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6666046	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6691048	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6693839	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs724508	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7542088	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7542281	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7542345	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7544132	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7553699	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7554566	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9332510	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332511	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332513	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332516	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332531	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9332533	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9332538	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9332542	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9332546	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9332553	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332554	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9332556	0.94[AMR][1000 genomes];0.89[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs742127	F5	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:169561600-169565000	Weak transcription	Liver	Liver
4	chr1:169562600-169564200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:169563400-169564200	Flanking Active TSS	GM12878-XiMat	blood
6	chr1:169563400-169564400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:169564000-169570200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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