Variant report

Variant	rs4088308
Chromosome Location	chr2:114113935-114113936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11894313	0.84[EUR][1000 genomes]
rs17043202	0.81[EUR][1000 genomes]
rs2001351	0.95[EUR][1000 genomes]
rs2004323	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2863958	0.95[EUR][1000 genomes]
rs55637730	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55769337	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55895659	0.95[EUR][1000 genomes]
rs56082174	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56088998	0.95[EUR][1000 genomes]
rs56111627	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56215109	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59766856	0.94[EUR][1000 genomes]
rs60409272	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60522356	0.85[EUR][1000 genomes]
rs60600282	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62158165	0.85[EUR][1000 genomes]
rs6710412	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72611917	0.92[EUR][1000 genomes]
rs72611918	0.95[EUR][1000 genomes]
rs72611919	0.95[EUR][1000 genomes]
rs72611921	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72611922	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114098200-114114800	Weak transcription	NHEK	skin
2	chr2:114099400-114116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:114101800-114115000	Weak transcription	HMEC	breast
4	chr2:114101800-114116000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:114106800-114129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:114108600-114116200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:114110600-114124600	Weak transcription	A549	lung
8	chr2:114112200-114114000	Enhancers	Fetal Kidney	kidney
9	chr2:114112200-114114400	Enhancers	Fetal Intestine Large	intestine
10	chr2:114112400-114114400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:114112600-114114000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:114112600-114114400	Enhancers	Fetal Intestine Small	intestine
13	chr2:114112800-114114000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:114113000-114114000	Enhancers	Fetal Lung	lung
15	chr2:114113200-114114000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:114113600-114114000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:114113600-114116200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:114113600-114116400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:114113800-114114000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:114113800-114114000	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:114113800-114114200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:114113800-114114400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:114113800-114116200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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