Variant report

Variant	rs72998548
Chromosome Location	chr2:210041252-210041253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10497926	0.84[EUR][1000 genomes]
rs10497929	0.91[AFR][1000 genomes]
rs1079125	0.89[AMR][1000 genomes]
rs1371436	0.89[AMR][1000 genomes]
rs17675171	0.91[AFR][1000 genomes]
rs17676871	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17677109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17690101	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17690726	0.82[EUR][1000 genomes]
rs17690867	0.82[EUR][1000 genomes]
rs17727631	0.89[AMR][1000 genomes]
rs17738731	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17738962	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17739021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17741608	0.86[EUR][1000 genomes]
rs1821985	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55912739	0.86[AMR][1000 genomes]
rs56242340	0.86[EUR][1000 genomes]
rs56251211	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56392159	0.94[EUR][1000 genomes]
rs6743365	0.82[EUR][1000 genomes]
rs72991851	0.91[AFR][1000 genomes]
rs72991855	0.91[AFR][1000 genomes]
rs72991868	0.83[AFR][1000 genomes]
rs72998591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72998595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72998599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73000403	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73000410	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73000412	0.80[AMR][1000 genomes]
rs73000499	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73006109	0.94[EUR][1000 genomes]
rs73006138	0.86[EUR][1000 genomes]
rs73006145	0.86[EUR][1000 genomes]
rs73006148	0.86[EUR][1000 genomes]
rs73006149	0.86[EUR][1000 genomes]
rs73006151	0.86[EUR][1000 genomes]
rs73006154	0.86[EUR][1000 genomes]
rs73006156	0.84[EUR][1000 genomes]
rs73006158	0.84[EUR][1000 genomes]
rs73006160	0.82[EUR][1000 genomes]
rs73006161	0.82[EUR][1000 genomes]
rs73006165	0.82[EUR][1000 genomes]
rs73006166	0.82[EUR][1000 genomes]
rs73006170	0.82[EUR][1000 genomes]
rs73006171	0.82[EUR][1000 genomes]
rs73006172	0.82[EUR][1000 genomes]
rs73006173	0.82[EUR][1000 genomes]
rs930611	0.82[EUR][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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