Variant report

Variant	rs2287467
Chromosome Location	chr12:47117060-47117061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10748451	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785635	0.84[ASN][1000 genomes]
rs10880996	0.91[EUR][1000 genomes]
rs10880997	0.88[EUR][1000 genomes]
rs11183600	0.81[EUR][1000 genomes]
rs11610453	0.84[EUR][1000 genomes]
rs12423908	0.85[EUR][1000 genomes]
rs12426014	0.82[EUR][1000 genomes]
rs12426320	0.84[EUR][1000 genomes]
rs12426545	0.89[EUR][1000 genomes]
rs12426593	0.85[EUR][1000 genomes]
rs180409	0.86[CEU][hapmap]
rs180427	0.85[CEU][hapmap]
rs2075334	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2080687	0.86[EUR][1000 genomes]
rs2098512	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2111772	0.85[EUR][1000 genomes]
rs2408622	0.87[EUR][1000 genomes]
rs4140781	0.89[EUR][1000 genomes]
rs4140782	0.89[EUR][1000 genomes]
rs4768132	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582673	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137051	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7300739	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7484804	0.80[EUR][1000 genomes]
rs7959022	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7972141	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47116000-47117200	Enhancers	Fetal Stomach	stomach
2	chr12:47116000-47117200	Enhancers	HSMM	muscle
3	chr12:47116000-47117800	Enhancers	Fetal Muscle Leg	muscle
4	chr12:47116000-47117800	Enhancers	NHDF-Ad	bronchial
5	chr12:47116000-47118000	Enhancers	Fetal Lung	lung
6	chr12:47116200-47117200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:47116200-47117600	Enhancers	Adipose Nuclei	Adipose
8	chr12:47116200-47117800	Enhancers	HSMMtube	muscle
9	chr12:47116400-47118400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:47116600-47117200	Enhancers	Brain Substantia Nigra	brain
11	chr12:47116600-47117200	Enhancers	Fetal Brain Male	brain
12	chr12:47116600-47117400	Enhancers	Brain Germinal Matrix	brain
13	chr12:47116600-47117400	Enhancers	Fetal Brain Female	brain
14	chr12:47117000-47117400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:47117000-47123200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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