Variant report

Variant	rs2053441
Chromosome Location	chr4:68748763-68748764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12642332	0.86[ASN][1000 genomes]
rs1371935	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438426	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1438427	0.87[ASN][1000 genomes]
rs1440742	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1440743	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1595934	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1899219	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2119382	0.87[ASN][1000 genomes]
rs2119383	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2874062	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35187434	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs353156	0.86[ASN][1000 genomes]
rs353159	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs353161	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs353163	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs353170	0.86[ASN][1000 genomes]
rs353173	0.86[ASN][1000 genomes]
rs353174	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4860264	0.86[ASN][1000 genomes]
rs4860862	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4860864	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842660	0.86[ASN][1000 genomes]
rs959636	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9992096	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[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	nsv879214	chr4:68389841-68789778	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv829960	chr4:68649237-68809629	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1007376	chr4:68693483-69008202	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1811886	chr4:68725776-68780041	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv879219	chr4:68743032-69028913	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:68741200-68751400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:68741400-68751800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:68741400-68752800	Weak transcription	Esophagus	oesophagus
4	chr4:68744800-68752800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:68746000-68748800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:68746600-68749600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:68747200-68750200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:68747200-68751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:68747600-68751200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:68747600-68751600	Weak transcription	NHLF	lung
11	chr4:68747800-68750000	Weak transcription	NHDF-Ad	bronchial
12	chr4:68747800-68750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:68747800-68750200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:68747800-68751600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:68747800-68751600	Weak transcription	HSMMtube	muscle
16	chr4:68748200-68748800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:68748200-68751400	Weak transcription	HSMM	muscle
18	chr4:68748400-68749600	Weak transcription	NHEK	skin

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