Variant report

Variant	rs72998551
Chromosome Location	chr2:210041369-210041370
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10173917	0.89[ASN][1000 genomes]
rs10176264	0.89[ASN][1000 genomes]
rs10179445	0.89[ASN][1000 genomes]
rs10182757	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10186025	0.89[ASN][1000 genomes]
rs10202821	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10497918	0.87[ASN][1000 genomes]
rs10497919	0.89[ASN][1000 genomes]
rs10497920	0.85[ASN][1000 genomes]
rs11900049	0.84[ASN][1000 genomes]
rs12694156	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12694157	0.90[ASN][1000 genomes]
rs12694159	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12694160	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12694162	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12694163	0.89[ASN][1000 genomes]
rs12694164	0.86[ASN][1000 genomes]
rs12694166	0.84[ASN][1000 genomes]
rs13000497	0.86[ASN][1000 genomes]
rs13015842	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13026809	0.86[ASN][1000 genomes]
rs13388501	0.83[ASN][1000 genomes]
rs13388592	0.84[ASN][1000 genomes]
rs13391201	0.84[ASN][1000 genomes]
rs13398502	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13418760	0.90[ASN][1000 genomes]
rs13423668	0.89[ASN][1000 genomes]
rs1439727	0.81[ASN][1000 genomes]
rs1439730	0.81[ASN][1000 genomes]
rs1439741	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1439743	0.90[ASN][1000 genomes]
rs1446603	0.81[ASN][1000 genomes]
rs1446604	0.81[ASN][1000 genomes]
rs1446605	0.80[ASN][1000 genomes]
rs1446606	0.80[ASN][1000 genomes]
rs1530132	0.90[ASN][1000 genomes]
rs1530133	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1583758	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1595737	0.89[ASN][1000 genomes]
rs1595738	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16842610	0.83[ASN][1000 genomes]
rs1837431	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1898943	0.90[ASN][1000 genomes]
rs2119038	0.90[ASN][1000 genomes]
rs2119039	0.90[ASN][1000 genomes]
rs2119041	0.90[ASN][1000 genomes]
rs34003755	0.89[ASN][1000 genomes]
rs34282948	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34590389	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34867362	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4020158	0.80[ASN][1000 genomes]
rs4332863	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4455100	0.80[ASN][1000 genomes]
rs4480932	0.80[ASN][1000 genomes]
rs4602158	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5009380	0.81[ASN][1000 genomes]
rs6435517	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707382	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6707503	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717755	0.89[ASN][1000 genomes]
rs6720624	0.81[ASN][1000 genomes]
rs6727838	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6733492	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6740295	0.89[ASN][1000 genomes]
rs6745027	0.83[ASN][1000 genomes]
rs6753916	0.81[ASN][1000 genomes]
rs6756445	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6757269	0.83[ASN][1000 genomes]
rs7420558	0.81[ASN][1000 genomes]
rs7563326	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7563731	0.89[ASN][1000 genomes]
rs7571546	0.89[ASN][1000 genomes]
rs7581212	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586718	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7593117	0.88[ASN][1000 genomes]
rs7593829	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7598051	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012184	chr2:209755847-210049331	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv536131	chr2:209755847-210049331	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009924	chr2:209805661-210042572	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv821890	chr2:210034780-210044146	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210038800-210056200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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