Variant report

Variant	rs62147630
Chromosome Location	chr2:72489047-72489048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1002415	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171231	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490039	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490040	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339845	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389007	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007906	1.00[ASN][1000 genomes]
rs17007927	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007929	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007933	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007934	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007937	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192012	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813510	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994075	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152907	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57013742	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58032693	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58173605	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58339219	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59269913	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61391258	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61450122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147574	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147580	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147581	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147586	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147587	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147588	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147598	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147600	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147601	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147622	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147624	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147625	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147627	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147631	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147637	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149279	0.84[EUR][1000 genomes]
rs62149280	0.84[EUR][1000 genomes]
rs62150087	1.00[ASN][1000 genomes]
rs62150096	1.00[ASN][1000 genomes]
rs62150097	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150118	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150119	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150120	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150123	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705261	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705347	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707549	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748698	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910329	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910330	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910350	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583202	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72465800-72490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72485200-72501800	Weak transcription	HSMMtube	muscle
3	chr2:72485400-72490000	Weak transcription	Fetal Heart	heart
4	chr2:72488200-72496600	Weak transcription	Psoas Muscle	Psoas
5	chr2:72489000-72489200	Enhancers	Aorta	Aorta
6	chr2:72489000-72489200	Enhancers	Ovary	ovary
7	chr2:72489000-72489200	Enhancers	Skeletal Muscle Male	skeletal muscle

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