Variant report

Variant	rs2097999
Chromosome Location	chr12:68361340-68361341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10748092	0.91[ASN][1000 genomes]
rs10784659	0.81[AFR][1000 genomes]
rs10784660	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784661	0.91[ASN][1000 genomes]
rs10784662	0.91[ASN][1000 genomes]
rs10784664	0.94[ASN][1000 genomes]
rs10878705	0.87[AFR][1000 genomes]
rs10878708	0.91[ASN][1000 genomes]
rs10878709	0.91[ASN][1000 genomes]
rs10878710	0.91[ASN][1000 genomes]
rs10878711	0.90[ASN][1000 genomes]
rs10878717	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10878722	0.90[ASN][1000 genomes]
rs11176970	0.91[ASN][1000 genomes]
rs11176971	0.91[ASN][1000 genomes]
rs11176976	0.91[ASN][1000 genomes]
rs11176977	0.91[ASN][1000 genomes]
rs12228138	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1548650	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1548651	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1548652	0.91[ASN][1000 genomes]
rs1548653	0.91[ASN][1000 genomes]
rs1860007	0.91[ASN][1000 genomes]
rs1905452	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2190735	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2839995	0.91[ASN][1000 genomes]
rs2870964	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141136	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4913266	0.81[AFR][1000 genomes]
rs4913386	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56229556	0.81[AFR][1000 genomes]
rs6581784	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7310108	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312407	0.86[AFR][1000 genomes]
rs7954182	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959275	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7962230	0.91[ASN][1000 genomes]
rs7965959	0.91[ASN][1000 genomes]
rs7979547	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68356200-68363200	Weak transcription	Psoas Muscle	Psoas
2	chr12:68356200-68370600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:68359200-68363000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:68359200-68363200	Weak transcription	HSMM	muscle
5	chr12:68359600-68362000	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:68361200-68362600	Weak transcription	Fetal Muscle Leg	muscle

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