Variant report

Variant	rs56139914
Chromosome Location	chr5:93545237-93545238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12108963	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55841810	0.86[AFR][1000 genomes]
rs57085081	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59487833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59827878	0.86[AFR][1000 genomes]
rs60583554	1.00[AMR][1000 genomes]
rs6882733	0.86[AFR][1000 genomes]
rs6884166	0.86[AFR][1000 genomes]
rs73773566	0.80[AFR][1000 genomes]
rs73773567	0.80[AFR][1000 genomes]
rs73773568	0.86[AFR][1000 genomes]
rs73773579	0.86[AFR][1000 genomes]
rs73773581	0.86[AFR][1000 genomes]
rs73773582	0.86[AFR][1000 genomes]
rs73773587	0.86[AFR][1000 genomes]
rs73773592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773593	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773595	1.00[AMR][1000 genomes]
rs7712087	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv530552	chr5:93416111-93588509	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1024014	chr5:93460441-93655609	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv830406	chr5:93514329-93683512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93528000-93545600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:93535800-93545600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:93536400-93546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:93536400-93551400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:93544600-93545600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:93544600-93545600	Weak transcription	Fetal Lung	lung

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