Variant report

Variant	rs28729677
Chromosome Location	chr15:44252362-44252363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11853395	0.83[EUR][1000 genomes]
rs1561458	0.83[EUR][1000 genomes]
rs16949992	0.83[EUR][1000 genomes]
rs2623015	0.97[EUR][1000 genomes]
rs28654093	0.83[EUR][1000 genomes]
rs2918952	0.83[EUR][1000 genomes]
rs2929275	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2929277	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929279	0.86[EUR][1000 genomes]
rs2929282	0.97[EUR][1000 genomes]
rs2930523	0.86[EUR][1000 genomes]
rs2930524	0.86[EUR][1000 genomes]
rs2930525	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34497759	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4321171	0.83[EUR][1000 genomes]
rs492571	0.83[EUR][1000 genomes]
rs545119	0.86[EUR][1000 genomes]
rs59561000	0.86[EUR][1000 genomes]
rs59770554	0.86[EUR][1000 genomes]
rs74009159	0.83[EUR][1000 genomes]
rs74009160	0.83[EUR][1000 genomes]
rs8035382	0.97[EUR][1000 genomes]
rs8035402	0.97[EUR][1000 genomes]
rs8035689	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv977844	chr15:44251952-44264610	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44250000-44253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:44251000-44267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:44251200-44252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:44251400-44256800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:44251600-44257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr15:44251600-44258600	Weak transcription	Brain Angular Gyrus	brain
7	chr15:44251600-44260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:44251800-44259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:44252000-44257000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:44252000-44258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:44252000-44258600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:44252000-44258600	Weak transcription	Brain Hippocampus Middle	brain
13	chr15:44252000-44258800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:44252000-44260400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:44252000-44262000	Weak transcription	Fetal Brain Female	brain

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