Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17566172	0.88[ASN][1000 genomes]
rs17567252	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17641091	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17641428	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55673394	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55807644	0.88[ASN][1000 genomes]
rs55914754	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55991348	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56040283	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56103229	0.88[ASN][1000 genomes]
rs56129807	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56232675	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72730664	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72730666	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72730668	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72749215	0.82[ASN][1000 genomes]
rs72749218	0.85[ASN][1000 genomes]
rs72749219	0.85[ASN][1000 genomes]
rs72749221	0.85[ASN][1000 genomes]
rs7519416	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7520639	0.85[ASN][1000 genomes]
rs7521141	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
3	nsv1006979	chr1:220488188-220501518	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv549223	chr1:220500958-220503401	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3355469	chr1:220501029-220505527	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220498800-220503000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:220499000-220501600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:220499000-220502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:220499000-220509400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:220500000-220501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:220500000-220502600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:220500200-220502800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:220500600-220510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:220500800-220509000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:220501200-220501400	Enhancers	Esophagus	oesophagus

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