Variant report

Variant	rs12317243
Chromosome Location	chr12:60561024-60561025
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10747869	0.92[ASN][1000 genomes]
rs10784031	1.00[ASN][1000 genomes]
rs11173317	0.93[AMR][1000 genomes]
rs11173375	0.92[ASN][1000 genomes]
rs11173381	0.92[ASN][1000 genomes]
rs11173388	0.85[ASN][1000 genomes]
rs12296463	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12297378	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12299963	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12303842	0.93[AMR][1000 genomes]
rs12303899	0.81[AMR][1000 genomes]
rs12306142	0.93[AMR][1000 genomes]
rs12307563	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12308835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12309540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12316539	0.93[AMR][1000 genomes]
rs12321091	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12321390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12322592	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1304314	0.92[ASN][1000 genomes]
rs1354471	0.92[ASN][1000 genomes]
rs1493326	0.93[AMR][1000 genomes]
rs17123427	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17123435	1.00[ASN][1000 genomes]
rs17123543	0.92[ASN][1000 genomes]
rs17123549	0.92[ASN][1000 genomes]
rs17123637	0.92[ASN][1000 genomes]
rs1948852	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2364147	0.92[ASN][1000 genomes]
rs3902471	0.92[ASN][1000 genomes]
rs4320983	0.92[ASN][1000 genomes]
rs4435040	0.92[ASN][1000 genomes]
rs4520627	0.92[ASN][1000 genomes]
rs4556582	0.92[ASN][1000 genomes]
rs57945859	0.93[AMR][1000 genomes]
rs61357417	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7132436	0.92[ASN][1000 genomes]
rs7133571	0.93[AMR][1000 genomes]
rs7135299	0.92[ASN][1000 genomes]
rs7139186	0.92[ASN][1000 genomes]
rs7297241	0.92[ASN][1000 genomes]
rs7300012	0.92[ASN][1000 genomes]
rs7300515	0.92[ASN][1000 genomes]
rs7300765	0.93[AMR][1000 genomes]
rs7309556	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7310877	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73364859	0.93[AMR][1000 genomes]
rs73370703	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73370791	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7961348	0.85[ASN][1000 genomes]
rs7975734	0.92[ASN][1000 genomes]
rs978912	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428591	chr12:60446360-60631044	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv427913	chr12:60462443-60569344	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2760273	chr12:60489188-60561925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	4 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	chr12:60560200-60565200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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