Variant report

Variant	rs55854004
Chromosome Location	chr5:88771937-88771938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:88767316..88769071-chr5:88771619..88773249,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs55763742	1.00[AMR][1000 genomes]
rs55902001	1.00[AMR][1000 genomes]
rs56061131	1.00[AMR][1000 genomes]
rs56144146	1.00[AMR][1000 genomes]
rs56166481	1.00[AMR][1000 genomes]
rs59135582	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59784242	1.00[AMR][1000 genomes]
rs6452822	1.00[AMR][1000 genomes]
rs6898669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73770507	1.00[AMR][1000 genomes]
rs73770511	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	1.00[AMR][1000 genomes]
rs73772160	1.00[AMR][1000 genomes]
rs73772161	1.00[AMR][1000 genomes]
rs73772165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772166	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772194	1.00[AMR][1000 genomes]
rs73772198	1.00[AMR][1000 genomes]
rs73772202	1.00[AMR][1000 genomes]
rs7713191	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
5	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
6	nsv830389	chr5:88669984-88860383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv882357	chr5:88677293-88774328	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
8	nsv882358	chr5:88677293-88776034	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
9	nsv882359	chr5:88710519-88785384	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
10	nsv882360	chr5:88716714-88785384	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	esv1845994	chr5:88736275-88847756	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:88770200-88775800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:88770400-88776000	Weak transcription	NHDF-Ad	bronchial
3	chr5:88771200-88779600	Weak transcription	Aorta	Aorta

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