Variant report

Variant	rs168217
Chromosome Location	chr13:92412926-92412927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:91999865..92002024-chr13:92412543..92415507,2	K562	blood:
2	chr13:92143103..92145187-chr13:92412548..92414765,2	K562	blood:
3	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12873046	0.86[EUR][1000 genomes]
rs1332090	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs168277	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs173141	0.81[CEU][hapmap]
rs182926	0.81[EUR][1000 genomes]
rs1847717	0.88[CEU][hapmap]
rs1854972	0.83[MKK][hapmap]
rs1854977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs193208	0.82[CEU][hapmap]
rs2352028	0.88[CEU][hapmap]
rs2352029	0.88[CEU][hapmap]
rs2352030	0.88[CEU][hapmap]
rs2938868	0.88[CEU][hapmap]
rs2938869	0.87[CEU][hapmap]
rs2938874	0.88[CEU][hapmap]
rs2989990	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2989995	0.87[CEU][hapmap]
rs2990004	0.88[CEU][hapmap]
rs2990007	0.88[CEU][hapmap]
rs342673	0.94[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs342696	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs342701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs342704	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs342706	0.88[CEU][hapmap];0.80[TSI][hapmap]
rs342707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs342708	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs345444	1.00[CEU][hapmap];0.85[GIH][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs345445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs386885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs400118	0.82[CEU][hapmap]
rs457306	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs464160	0.88[CEU][hapmap]
rs464167	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs522812	0.81[EUR][1000 genomes]
rs528366	0.88[CEU][hapmap]
rs535973	0.88[CEU][hapmap]
rs543718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs547293	0.82[ASN][1000 genomes]
rs7991916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv456065	chr13:92383193-92507887	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv562719	chr13:92383193-92507887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv948820	chr13:92408505-92519053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs168217	C13orf25	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92383000-92419400	Weak transcription	Hela-S3	cervix

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