Variant report

Variant	rs13171160
Chromosome Location	chr5:98797928-98797929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12188628	0.89[ASN][1000 genomes]
rs2177378	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3906408	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373739	0.81[ASN][1000 genomes]
rs6870932	0.92[ASN][1000 genomes]
rs7725604	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7731206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9326799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599118	chr5:98358191-99029453	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv599119	chr5:98358191-99315677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2758005	chr5:98605325-98889594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759358	chr5:98605325-98889594	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1022266	chr5:98662648-99068661	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv427725	chr5:98739083-99048829	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1033966	chr5:98753399-98878804	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1023117	chr5:98753399-98935234	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1033873	chr5:98758435-98814748	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
10	nsv1015193	chr5:98758435-98819617	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
11	esv2763472	chr5:98767744-98813855	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
12	nsv1023389	chr5:98769659-98799864	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
13	nsv1022942	chr5:98769659-98809034	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
14	nsv1033015	chr5:98769659-98813843	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	nsv1015858	chr5:98769659-98814748	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
16	nsv1033525	chr5:98769659-98819617	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	nsv1032125	chr5:98769659-98821072	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
18	nsv1024998	chr5:98769659-98840614	Weak transcription Enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
19	nsv1021478	chr5:98769659-98844524	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
20	nsv1033351	chr5:98769659-98902554	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv882420	chr5:98770145-99183797	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv599125	chr5:98770698-98841255	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
23	nsv964910	chr5:98771078-98803307	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
24	nsv1022318	chr5:98772752-98839862	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
25	esv2755022	chr5:98774240-98842090	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv517312	chr5:98775330-98797928	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
27	nsv462313	chr5:98779530-98797928	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
28	nsv599126	chr5:98779530-98797928	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
29	nsv882421	chr5:98779530-99249466	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13171160	RIOK2	cis	parietal	SCAN
rs13171160	IL17RD	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98795600-98798000	Enhancers	HUVEC	blood vessel
2	chr5:98797800-98798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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