Variant report

Variant	rs12464451
Chromosome Location	chr2:38032078-38032079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10490150	0.82[ASN][1000 genomes]
rs11125348	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688722	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464044	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12464123	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12472181	0.94[ASN][1000 genomes]
rs12472560	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12472600	0.91[AMR][1000 genomes]
rs12476371	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12990068	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12990382	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13028663	0.80[ASN][1000 genomes]
rs13402444	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13405861	0.83[ASN][1000 genomes]
rs1477058	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17270534	0.86[ASN][1000 genomes]
rs2160408	0.93[ASN][1000 genomes]
rs2193398	0.82[ASN][1000 genomes]
rs2216305	0.82[ASN][1000 genomes]
rs4971738	0.83[ASN][1000 genomes]
rs4971739	0.91[ASN][1000 genomes]
rs7565012	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7570491	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7599550	0.82[EUR][1000 genomes]
rs7603699	0.94[ASN][1000 genomes]
rs7603819	0.95[ASN][1000 genomes]
rs9678540	0.89[ASN][1000 genomes]
rs9678552	0.90[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	esv2757793	chr2:37796654-38138939	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2759043	chr2:37796654-38138939	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv833836	chr2:37966343-38114077	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38024200-38035600	Weak transcription	Fetal Kidney	kidney
2	chr2:38026400-38036000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:38030400-38034200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:38030800-38036000	Weak transcription	Ovary	ovary
5	chr2:38030800-38036800	Weak transcription	Aorta	Aorta
6	chr2:38031000-38034200	Weak transcription	HSMM	muscle
7	chr2:38031000-38035800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:38031000-38036200	Weak transcription	Osteobl	bone
9	chr2:38031000-38037200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:38031200-38033800	Weak transcription	HSMMtube	muscle
11	chr2:38031200-38035800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:38031200-38036000	Weak transcription	Muscle Satellite Cultured Cells	--

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