Variant report

Variant	rs12514805
Chromosome Location	chr5:106697485-106697486
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106691889..106694112-chr5:106696558..106699437,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10447299	0.90[ASN][1000 genomes]
rs1121840	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13166574	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13189743	0.89[ASN][1000 genomes]
rs1593022	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35563722	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6860893	0.90[ASN][1000 genomes]
rs6893449	0.90[ASN][1000 genomes]
rs7708173	0.83[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	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
5	nsv519799	chr5:106697485-106697851	Enhancers Weak 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	chr5:106695600-106697800	Weak transcription	Adipose Nuclei	Adipose
5	chr5:106695800-106697600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:106695800-106697600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:106695800-106697600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:106695800-106697600	Weak transcription	Fetal Lung	lung
9	chr5:106695800-106697600	Weak transcription	GM12878-XiMat	blood
10	chr5:106696000-106697600	Weak transcription	Fetal Stomach	stomach
11	chr5:106696000-106700400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:106696200-106697600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:106696200-106700600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:106696400-106700600	Weak transcription	Primary B cells from cord blood	blood
15	chr5:106696400-106700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:106696600-106700800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:106697000-106701200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:106697400-106697800	Enhancers	A549	lung
19	chr5:106697400-106698200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:106697400-106698200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:106697400-106698200	Enhancers	Liver	Liver
22	chr5:106697400-106698200	Enhancers	Hela-S3	cervix

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