Variant report

Variant	rs252699
Chromosome Location	chr5:106696541-106696542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1212393	0.91[ASN][1000 genomes]
rs166159	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs173756	0.88[ASN][1000 genomes]
rs173758	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs252674	0.87[ASN][1000 genomes]
rs252675	0.88[ASN][1000 genomes]
rs252676	0.82[ASN][1000 genomes]
rs252679	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs252680	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs252681	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs252682	0.88[ASN][1000 genomes]
rs252683	0.88[ASN][1000 genomes]
rs252697	0.87[EUR][1000 genomes]
rs252698	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs412541	0.92[ASN][1000 genomes]
rs423882	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs444702	0.90[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	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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 target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2760982	chr5:106680849-106702473	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106683600-106697800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:106694800-106702400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:106695000-106699000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:106695400-106696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:106695400-106697400	Weak transcription	Liver	Liver
6	chr5:106695600-106697800	Weak transcription	Adipose Nuclei	Adipose
7	chr5:106695800-106697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:106695800-106697400	Weak transcription	A549	lung
9	chr5:106695800-106697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:106695800-106697600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:106695800-106697600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:106695800-106697600	Weak transcription	Fetal Lung	lung
13	chr5:106695800-106697600	Weak transcription	GM12878-XiMat	blood
14	chr5:106696000-106697000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:106696000-106697600	Weak transcription	Fetal Stomach	stomach
16	chr5:106696000-106700400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:106696200-106697400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:106696200-106697400	Weak transcription	Hela-S3	cervix
19	chr5:106696200-106697600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:106696200-106700600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:106696400-106700600	Weak transcription	Primary B cells from cord blood	blood
22	chr5:106696400-106700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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