Variant report

Variant	rs7217560
Chromosome Location	chr17:17194838-17194839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12453455	0.82[CHB][hapmap]
rs1630656	0.80[MEX][hapmap];0.81[TSI][hapmap]
rs1708628	0.80[GIH][hapmap];0.85[MEX][hapmap];0.81[TSI][hapmap];0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs1736204	0.88[YRI][hapmap]
rs1736205	0.88[YRI][hapmap]
rs1736208	0.83[YRI][hapmap]
rs1736211	0.83[YRI][hapmap]
rs2012954	0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2472689	0.88[YRI][hapmap];0.82[EUR][1000 genomes]
rs3866959	0.80[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4985760	0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6502568	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6502569	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6502570	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7220577	0.81[GIH][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7220827	0.81[EUR][1000 genomes]
rs7221553	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7225876	0.81[AMR][1000 genomes]
rs9892352	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7217560	RAI1	cis	cerebellum	SCAN
rs7217560	ULK2	cis	cerebellum	SCAN
rs7217560	FLCN	cis	parietal	SCAN
rs7217560	FLCN	cis	cerebellum	SCAN
rs7217560	SMCR8	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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