Variant report

Variant	rs13130600
Chromosome Location	chr4:57745110-57745111
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57741268..57742885-chr4:57744853..57746606,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11721387	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11726410	1.00[ASN][1000 genomes]
rs11726443	1.00[ASN][1000 genomes]
rs11726548	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11727329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731657	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13116564	0.85[EUR][1000 genomes]
rs13123018	0.92[ASN][1000 genomes]
rs13125082	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128671	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13130604	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2002153	0.85[EUR][1000 genomes]
rs2412761	1.00[ASN][1000 genomes]
rs34308849	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34840470	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs34937594	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35185186	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35318869	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4276341	0.82[EUR][1000 genomes]
rs4413466	1.00[ASN][1000 genomes]
rs4443350	1.00[ASN][1000 genomes]
rs4864606	0.85[EUR][1000 genomes]
rs4865160	0.84[EUR][1000 genomes]
rs55822707	0.83[EUR][1000 genomes]
rs56143151	1.00[ASN][1000 genomes]
rs62308068	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62308099	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62308100	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62308107	0.91[ASN][1000 genomes]
rs62308135	0.86[EUR][1000 genomes]
rs62308136	0.86[EUR][1000 genomes]
rs62308153	1.00[ASN][1000 genomes]
rs66619445	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6839166	1.00[ASN][1000 genomes]
rs729844	0.85[EUR][1000 genomes]
rs73242609	0.86[EUR][1000 genomes]
rs7684642	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7685053	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9055	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9684742	0.83[EUR][1000 genomes]
rs9760540	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822561	chr4:57736121-57747867	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13130600	RP11-738E22.3	cis	Esophagus Mucosa	GTEx
rs13130600	RP11-738E22.3	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57738200-57746400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:57741400-57750800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:57744400-57748800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:57745000-57747000	Enhancers	GM12878-XiMat	blood

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