Variant report

Variant	rs12054932
Chromosome Location	chr5:106309238-106309239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10052471	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10068963	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10075477	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10477875	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10479391	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653426	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369477	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4073517	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4262090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4351137	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382150	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476284	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4533874	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4957679	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866081	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6866693	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6874482	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6880364	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885273	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6893146	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7443308	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9327985	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9327986	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016354	chr5:105752391-106392762	ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv830439	chr5:106192038-106383828	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS 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	nsv882679	chr5:106263197-106399718	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1841017	chr5:106299280-106325865	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv525317	chr5:106308008-106311248	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
7	esv1795812	chr5:106308008-106326299	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
8	esv1799346	chr5:106308008-106326299	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
9	esv1815884	chr5:106308008-106326299	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
10	esv1843510	chr5:106308008-106326299	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
11	esv1850520	chr5:106308008-106326299	Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a
12	esv1815273	chr5:106308008-106326475	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106295800-106309400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:106302400-106314200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:106304600-106313000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:106308000-106313600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:106308200-106312000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:106308400-106310800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:106308400-106312200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:106308400-106313200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:106308600-106309800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:106308600-106310000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:106308800-106314200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:106309000-106310400	Enhancers	Fetal Heart	heart
13	chr5:106309200-106309800	Enhancers	Colon Smooth Muscle	Colon

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