Variant report

Variant	rs17748222
Chromosome Location	chr7:66441092-66441093
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10228964	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10231411	0.90[TSI][hapmap]
rs10264433	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10264555	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266792	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10280816	0.83[AMR][1000 genomes]
rs1060527	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1064795	0.91[TSI][hapmap]
rs13437994	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17680708	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17748115	0.91[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28472679	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28501161	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28641990	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28675035	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28817095	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3800818	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59693594	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6965680	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6971508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71526586	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73145924	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73151646	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73151663	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151665	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7777631	0.81[GIH][hapmap];0.91[TSI][hapmap]
rs7785883	0.81[ASN][1000 genomes]
rs7809359	0.81[ASN][1000 genomes]
rs7809535	0.81[ASN][1000 genomes]
rs868960	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv966836	chr7:66438146-66457576	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17748222	GUSB	cis	cerebellum	SCAN
rs17748222	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs17748222	CRCP	cis	cerebellum	SCAN
rs17748222	CRCP	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
5	chr7:66438800-66444800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:66439000-66445000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:66439600-66441200	Enhancers	K562	blood
8	chr7:66440400-66442800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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