Variant report

Variant	rs13157347
Chromosome Location	chr5:147699410-147699411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:147699381-147699712	SK-N-SH_RA	brain:	n/a	n/a
2	YY1	chr5:147699378-147700012	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:147699395-147700082	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SPINK9	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10036053	0.89[EUR][1000 genomes]
rs10037318	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10041283	0.80[ASN][1000 genomes]
rs10044054	0.89[EUR][1000 genomes]
rs10044061	0.80[ASN][1000 genomes]
rs10050560	0.89[EUR][1000 genomes]
rs10057472	0.85[EUR][1000 genomes]
rs10060180	0.82[EUR][1000 genomes]
rs10060753	0.82[ASN][1000 genomes]
rs10068216	0.80[ASN][1000 genomes]
rs10068891	0.93[EUR][1000 genomes]
rs10072051	0.80[ASN][1000 genomes]
rs10072817	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072958	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10476892	0.90[EUR][1000 genomes]
rs10477374	0.89[EUR][1000 genomes]
rs10515610	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12516267	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12519039	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12521065	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12717971	0.86[EUR][1000 genomes]
rs13153619	0.90[EUR][1000 genomes]
rs13158948	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13176114	0.93[EUR][1000 genomes]
rs13358385	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1363704	0.89[EUR][1000 genomes]
rs1363705	0.84[EUR][1000 genomes]
rs1363707	0.85[EUR][1000 genomes]
rs1422968	0.86[EUR][1000 genomes]
rs1422970	0.86[EUR][1000 genomes]
rs1582519	0.92[EUR][1000 genomes]
rs17719578	0.93[EUR][1000 genomes]
rs17719662	0.89[EUR][1000 genomes]
rs17719763	0.87[EUR][1000 genomes]
rs17719873	0.86[EUR][1000 genomes]
rs17776554	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17776674	0.85[EUR][1000 genomes]
rs1862430	0.93[EUR][1000 genomes]
rs1862431	0.89[EUR][1000 genomes]
rs2161432	0.90[EUR][1000 genomes]
rs2216653	0.90[EUR][1000 genomes]
rs2400509	0.93[EUR][1000 genomes]
rs2400510	0.93[EUR][1000 genomes]
rs28442279	0.85[EUR][1000 genomes]
rs2895761	0.86[EUR][1000 genomes]
rs34001290	0.91[EUR][1000 genomes]
rs34163281	0.93[EUR][1000 genomes]
rs35006442	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35700061	0.86[EUR][1000 genomes]
rs35792476	0.93[EUR][1000 genomes]
rs3749689	0.89[EUR][1000 genomes]
rs3749690	0.93[EUR][1000 genomes]
rs4705248	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705249	0.89[EUR][1000 genomes]
rs4705251	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4705252	0.92[EUR][1000 genomes]
rs6580542	0.93[EUR][1000 genomes]
rs6580544	0.87[EUR][1000 genomes]
rs6580545	0.87[EUR][1000 genomes]
rs6580546	0.87[EUR][1000 genomes]
rs6580548	0.89[EUR][1000 genomes]
rs6860261	0.87[EUR][1000 genomes]
rs6865036	0.91[EUR][1000 genomes]
rs6865972	0.91[EUR][1000 genomes]
rs6866106	0.89[EUR][1000 genomes]
rs6875252	0.93[EUR][1000 genomes]
rs6875795	0.85[EUR][1000 genomes]
rs6876308	0.85[EUR][1000 genomes]
rs6876982	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6882932	0.92[EUR][1000 genomes]
rs6886203	0.89[EUR][1000 genomes]
rs6891724	0.89[EUR][1000 genomes]
rs6892647	0.87[EUR][1000 genomes]
rs6893378	0.91[EUR][1000 genomes]
rs6894032	0.90[EUR][1000 genomes]
rs7712350	0.85[EUR][1000 genomes]
rs7713986	0.93[EUR][1000 genomes]
rs7716578	0.89[EUR][1000 genomes]
rs7722458	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7729309	0.92[EUR][1000 genomes]
rs7730707	0.87[EUR][1000 genomes]
rs7731526	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7734458	0.93[EUR][1000 genomes]
rs7736728	0.90[EUR][1000 genomes]
rs9325094	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9784645	0.89[EUR][1000 genomes]
rs999741	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1801220	chr5:147694648-147705789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147689000-147699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147693800-147699600	Weak transcription	Esophagus	oesophagus
3	chr5:147694200-147699600	Weak transcription	Left Ventricle	heart
4	chr5:147695000-147699600	Weak transcription	Right Atrium	heart
5	chr5:147695800-147699600	Weak transcription	Ovary	ovary
6	chr5:147697000-147699600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:147698600-147700400	Active TSS	Fetal Lung	lung
8	chr5:147699400-147699600	Enhancers	Fetal Muscle Trunk	muscle
9	chr5:147699400-147700600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr5:147699400-147700600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:147699400-147700600	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:147699400-147700600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr5:147699400-147700600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:147699400-147700600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:147699400-147700600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:147699400-147700600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr5:147699400-147700600	Active TSS	Fetal Intestine Small	intestine

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