Variant report

Variant	rs12108963
Chromosome Location	chr5:93548366-93548367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13163610	0.88[YRI][hapmap]
rs13174700	0.88[YRI][hapmap]
rs17323433	0.88[YRI][hapmap]
rs17376207	0.88[YRI][hapmap]
rs56139914	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57085081	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59487833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60583554	1.00[AMR][1000 genomes]
rs73773592	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773595	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7712087	0.88[YRI][hapmap];0.90[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93536400-93551400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:93545400-93550400	Enhancers	Fetal Intestine Small	intestine
3	chr5:93545600-93554200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:93546000-93552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:93546000-93555000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:93546600-93550400	Enhancers	Fetal Intestine Large	intestine
7	chr5:93548200-93548400	Enhancers	Fetal Lung	lung
8	chr5:93548200-93548600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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