Variant report

Variant	rs72744629
Chromosome Location	chr5:27242711-27242712
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1026764	0.85[EUR][1000 genomes]
rs12110293	1.00[EUR][1000 genomes]
rs17509120	0.97[EUR][1000 genomes]
rs2125762	0.97[EUR][1000 genomes]
rs34372144	0.97[EUR][1000 genomes]
rs4340884	0.85[EUR][1000 genomes]
rs4407597	1.00[EUR][1000 genomes]
rs67288216	1.00[EUR][1000 genomes]
rs67301485	1.00[EUR][1000 genomes]
rs72744611	1.00[EUR][1000 genomes]
rs72744614	1.00[EUR][1000 genomes]
rs72744616	1.00[EUR][1000 genomes]
rs72744624	0.97[EUR][1000 genomes]
rs72744628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv868856	chr5:26789778-27321390	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv3450425	chr5:27134073-27323407	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881286	chr5:27135351-27770554	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv880298	chr5:27193573-27659111	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv880326	chr5:27193573-27743375	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27240800-27243200	Enhancers	NH-A	brain
2	chr5:27240800-27243800	Enhancers	HMEC	breast
3	chr5:27241000-27242800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:27241000-27243000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:27241000-27243200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:27241000-27243400	Enhancers	Hela-S3	cervix
7	chr5:27241000-27243600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:27241200-27242800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:27241200-27242800	Enhancers	Osteobl	bone
10	chr5:27241200-27243200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:27241200-27243800	Enhancers	NHEK	skin
12	chr5:27241400-27243400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:27241600-27242800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:27241600-27242800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:27241600-27242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:27241600-27242800	Enhancers	HSMMtube	muscle
17	chr5:27242000-27243200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:27242400-27243200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:27242600-27242800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:27242600-27242800	Enhancers	Primary hematopoietic stem cells	blood

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