Variant report

Variant	rs348422
Chromosome Location	chr5:100841048-100841049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10040426	0.87[EUR][1000 genomes]
rs11960408	0.80[ASN][1000 genomes]
rs13360352	0.80[ASN][1000 genomes]
rs1602425	0.85[ASN][1000 genomes]
rs164618	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs164620	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs164621	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs164622	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs189489	0.91[ASN][1000 genomes]
rs348400	0.80[ASN][1000 genomes]
rs348401	0.80[ASN][1000 genomes]
rs348402	0.80[ASN][1000 genomes]
rs348403	0.80[ASN][1000 genomes]
rs348423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs348424	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs348444	0.83[ASN][1000 genomes]
rs350506	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs350507	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs350508	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs350527	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs350528	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs352055	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs352060	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs365366	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs365403	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs369366	0.85[ASN][1000 genomes]
rs395739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408727	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs412159	0.85[ASN][1000 genomes]
rs453785	0.85[ASN][1000 genomes]
rs456512	0.85[ASN][1000 genomes]
rs460812	0.85[ASN][1000 genomes]
rs463792	0.85[ASN][1000 genomes]
rs466664	0.85[ASN][1000 genomes]
rs57706967	0.85[EUR][1000 genomes]
rs59109546	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs67015325	0.84[ASN][1000 genomes]
rs6873907	0.81[EUR][1000 genomes]
rs7720007	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528811	chr5:100424081-101218087	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1032191	chr5:100455166-100852106	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv516292	chr5:100490972-100925684	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv882479	chr5:100587626-100941372	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv432792	chr5:100756024-100867529	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2760962	chr5:100776199-101485581	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv882493	chr5:100798650-100971002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv882494	chr5:100798650-100971002	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100840800-100842200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:100841000-100842200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:100841000-100842200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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