Variant report

Variant	rs12923156
Chromosome Location	chr16:48478325-48478326
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000109111	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000261802	Chromatin interaction
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12923008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12925043	0.93[ASN][1000 genomes]
rs13337718	0.90[ASN][1000 genomes]
rs16946181	0.93[ASN][1000 genomes]
rs36028169	0.93[ASN][1000 genomes]
rs66497668	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7199557	0.93[ASN][1000 genomes]
rs8047729	0.93[ASN][1000 genomes]
rs8063703	1.00[ASN][1000 genomes]
rs9630637	0.93[ASN][1000 genomes]
rs9630638	0.93[ASN][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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
7	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	esv1008270	chr16:48474586-48482323	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48466400-48487200	Weak transcription	Right Ventricle	heart
2	chr16:48469200-48478400	Weak transcription	Lung	lung
3	chr16:48470200-48478800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:48473200-48478400	Weak transcription	Placenta	Placenta
5	chr16:48475200-48478600	Enhancers	HepG2	liver
6	chr16:48475600-48478800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:48475800-48478600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:48475800-48478800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:48475800-48480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:48476600-48478600	Enhancers	A549	lung
11	chr16:48477200-48478400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:48478000-48478600	Enhancers	Hela-S3	cervix
13	chr16:48478000-48479400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:48478200-48478600	Enhancers	Colonic Mucosa	Colon
15	chr16:48478200-48478600	Enhancers	NH-A	brain
16	chr16:48478200-48478800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:48478200-48479000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr16:48478200-48479400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr16:48478200-48479400	Enhancers	HMEC	breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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