Variant report

Variant	rs7713191
Chromosome Location	chr5:88669300-88669301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs55763742	1.00[AMR][1000 genomes]
rs55854004	1.00[AMR][1000 genomes]
rs55902001	1.00[AMR][1000 genomes]
rs55962744	1.00[AMR][1000 genomes]
rs56061131	1.00[AMR][1000 genomes]
rs56144146	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56166481	1.00[AMR][1000 genomes]
rs58741262	1.00[AMR][1000 genomes]
rs59135582	1.00[AMR][1000 genomes]
rs59398300	1.00[AMR][1000 genomes]
rs59784242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6452822	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6898669	1.00[AMR][1000 genomes]
rs73770475	1.00[AMR][1000 genomes]
rs73770478	1.00[AMR][1000 genomes]
rs73770501	1.00[AMR][1000 genomes]
rs73770507	1.00[AMR][1000 genomes]
rs73770511	1.00[AMR][1000 genomes]
rs73772108	1.00[AMR][1000 genomes]
rs73772114	1.00[AMR][1000 genomes]
rs73772118	1.00[AMR][1000 genomes]
rs73772136	1.00[AMR][1000 genomes]
rs73772138	1.00[AMR][1000 genomes]
rs73772140	1.00[AMR][1000 genomes]
rs73772141	1.00[AMR][1000 genomes]
rs73772153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772160	1.00[AMR][1000 genomes]
rs73772161	1.00[AMR][1000 genomes]
rs73772165	1.00[AMR][1000 genomes]
rs73772166	1.00[AMR][1000 genomes]
rs73772194	1.00[AMR][1000 genomes]
rs73772198	1.00[AMR][1000 genomes]
rs73772202	1.00[AMR][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	nsv532159	chr5:88016214-88783092	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv533373	chr5:88062497-89028098	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv529543	chr5:88348147-88783092	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv830387	chr5:88547862-88682442	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv830388	chr5:88578939-88793870	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv598927	chr5:88647766-88780868	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88668200-88669400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:88668200-88673600	Weak transcription	K562	blood
3	chr5:88669000-88670000	Enhancers	GM12878-XiMat	blood
4	chr5:88669200-88669400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr5:88669200-88669400	Enhancers	Sigmoid Colon	Sigmoid Colon

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