Variant report

Variant	rs12993449
Chromosome Location	chr2:134463168-134463169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11884849	0.88[ASN][1000 genomes]
rs11888079	0.88[ASN][1000 genomes]
rs12989658	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12993296	0.88[ASN][1000 genomes]
rs12995146	0.88[ASN][1000 genomes]
rs12996062	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12998809	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12998999	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008209	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011121	0.88[ASN][1000 genomes]
rs13013221	0.88[ASN][1000 genomes]
rs13013946	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015979	0.88[ASN][1000 genomes]
rs13028951	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13032020	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13032581	0.88[ASN][1000 genomes]
rs13033059	0.88[ASN][1000 genomes]
rs13036190	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1374405	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1446752	0.88[ASN][1000 genomes]
rs1562348	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1584239	0.94[EUR][1000 genomes]
rs1867897	0.88[ASN][1000 genomes]
rs1869054	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34454875	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961497	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36066383	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440017	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536693	0.88[ASN][1000 genomes]
rs62167107	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716309	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726463	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568394	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568496	0.88[ASN][1000 genomes]
rs7574116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917166	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134462600-134463400	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr2:134462800-134463200	Active TSS	Brain Cingulate Gyrus	brain
3	chr2:134462800-134463400	Enhancers	Brain Hippocampus Middle	brain
4	chr2:134462800-134463400	Enhancers	NH-A	brain
5	chr2:134463000-134463400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:134463000-134463400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:134463000-134463400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:134463000-134463400	Enhancers	Brain Substantia Nigra	brain
9	chr2:134463000-134463400	Enhancers	HMEC	breast
10	chr2:134463000-134463400	Enhancers	NHDF-Ad	bronchial
11	chr2:134463000-134463600	Enhancers	Brain Angular Gyrus	brain

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