Variant report

Variant	rs12713441
Chromosome Location	chr2:21590196-21590197
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10865318	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1106843	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410732	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs219513	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs219515	0.90[EUR][1000 genomes]
rs219516	0.85[EUR][1000 genomes]
rs219562	0.83[EUR][1000 genomes]
rs892459	0.87[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	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv455863	chr2:21547003-21615340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv581170	chr2:21547003-21615340	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv528844	chr2:21587225-21605003	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21582000-21634600	Weak transcription	Aorta	Aorta
2	chr2:21585400-21590600	Weak transcription	Fetal Lung	lung
3	chr2:21587000-21592400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:21589800-21590400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:21589800-21590600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:21589800-21590600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:21589800-21590800	Enhancers	HMEC	breast
8	chr2:21589800-21590800	Enhancers	NHEK	skin
9	chr2:21590000-21590800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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