Variant report

Variant	rs11112596
Chromosome Location	chr12:105962723-105962724
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10861456	0.82[EUR][1000 genomes]
rs10861457	0.82[EUR][1000 genomes]
rs11112595	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1317555	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1526844	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1526846	0.82[ASN][1000 genomes]
rs1806811	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1997174	0.82[EUR][1000 genomes]
rs2049571	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2049572	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2374514	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2374515	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2694388	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2694390	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2694394	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2694395	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2694398	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2694399	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2694400	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2694401	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2694404	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2711732	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2711734	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2711735	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2711736	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2711737	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2711739	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2711741	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2888859	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4468444	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs876929	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs885131	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs941105	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
2	chr12:105956400-105967400	Weak transcription	Left Ventricle	heart
3	chr12:105956600-105979000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105957400-105967800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:105958000-105965000	Strong transcription	HUVEC	blood vessel
6	chr12:105958200-105963600	Weak transcription	Fetal Heart	heart
7	chr12:105959800-105964000	Weak transcription	HSMMtube	muscle

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