Variant report

Variant	rs34202320
Chromosome Location	chr2:114099799-114099800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1191680	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1191681	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1191686	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1191690	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13032628	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1807281	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1867866	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2863959	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	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
3	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114083400-114108000	Weak transcription	Lung	lung
2	chr2:114093800-114100200	Weak transcription	NHDF-Ad	bronchial
3	chr2:114096800-114101600	Weak transcription	Right Atrium	heart
4	chr2:114098000-114107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:114098200-114100200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:114098200-114100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:114098200-114100400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:114098200-114101000	Weak transcription	HMEC	breast
9	chr2:114098200-114101600	Weak transcription	HSMM	muscle
10	chr2:114098200-114114800	Weak transcription	NHEK	skin
11	chr2:114098800-114100400	Enhancers	Fetal Intestine Large	intestine
12	chr2:114098800-114100400	Enhancers	Fetal Stomach	stomach
13	chr2:114099000-114100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:114099000-114101000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:114099200-114100200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:114099200-114100200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:114099400-114100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:114099400-114100200	Weak transcription	A549	lung
19	chr2:114099400-114100400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:114099400-114116000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:114099600-114101000	Enhancers	Primary monocytes fromperipheralblood	blood

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