Variant report

Variant	rs7551819
Chromosome Location	chr1:169616709-169616710
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169614149..169618118-chr1:169618692..169623523,5	K562	blood:
2	chr1:169614149..169617850-chr1:169618797..169622086,4	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1011267	0.92[ASN][1000 genomes]
rs10753788	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10753791	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800460	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10800462	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10800463	0.95[ASN][1000 genomes]
rs10919209	0.93[ASN][1000 genomes]
rs10919210	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919211	0.93[ASN][1000 genomes]
rs10919212	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919213	0.94[ASN][1000 genomes]
rs10919215	0.95[ASN][1000 genomes]
rs10919217	0.94[ASN][1000 genomes]
rs11484813	0.93[ASN][1000 genomes]
rs11484820	0.92[ASN][1000 genomes]
rs11487550	0.94[ASN][1000 genomes]
rs12075684	0.97[ASN][1000 genomes]
rs12086443	0.95[ASN][1000 genomes]
rs12089772	0.94[ASN][1000 genomes]
rs12095598	0.94[ASN][1000 genomes]
rs12119392	0.94[ASN][1000 genomes]
rs12138071	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1569473	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1800807	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1963141	0.92[ASN][1000 genomes]
rs2142759	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2179171	0.93[ASN][1000 genomes]
rs2179188	0.95[ASN][1000 genomes]
rs2236866	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2236867	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2420379	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34997657	0.94[ASN][1000 genomes]
rs3917647	0.89[CHB][hapmap];0.88[ASN][1000 genomes]
rs3917683	0.89[GIH][hapmap];0.84[LWK][hapmap];0.87[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3917698	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4450069	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4486499	0.94[ASN][1000 genomes]
rs4508079	0.95[ASN][1000 genomes]
rs4537623	0.94[ASN][1000 genomes]
rs6427205	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6666554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678930	0.93[ASN][1000 genomes]
rs6687517	0.95[ASN][1000 genomes]
rs6690763	0.93[ASN][1000 genomes]
rs7415448	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7513508	0.95[ASN][1000 genomes]
rs7517544	0.95[ASN][1000 genomes]
rs7520518	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7525857	0.93[ASN][1000 genomes]
rs7530405	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7537814	0.93[ASN][1000 genomes]
rs7544874	0.95[ASN][1000 genomes]
rs7552947	0.94[ASN][1000 genomes]
rs764199	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9659257	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7551819	F5	cis	parietal	SCAN
rs7551819	PBX1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169605200-169617000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:169609000-169616800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:169611600-169616800	Weak transcription	Dnd41	blood
4	chr1:169611800-169618000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:169616000-169617000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:169616600-169616800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr1:169616600-169619600	Enhancers	Primary T cells from cord blood	blood

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