Variant report

Variant	rs4358094
Chromosome Location	chr2:11815492-11815493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10210590	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10210917	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12612207	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12692444	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4233897	1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];0.95[MKK][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4578832	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4669767	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4669769	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap];0.87[YRI][hapmap];0.99[ASN][1000 genomes]
rs6737137	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7568123	0.87[ASN][1000 genomes]
rs7575374	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:11810600-11816600	Weak transcription	Psoas Muscle	Psoas
2	chr2:11810600-11817000	Weak transcription	Right Ventricle	heart
3	chr2:11814800-11816800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:11815000-11817600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:11815200-11816000	Enhancers	Hela-S3	cervix
6	chr2:11815400-11817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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