Variant report

Variant	rs62305543
Chromosome Location	chr4:87217713-87217714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1031739	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1460752	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17408832	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17409478	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17409637	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17449147	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17449582	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17451111	0.84[AMR][1000 genomes]
rs2869423	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2869433	0.82[AMR][1000 genomes]
rs2869434	0.81[AMR][1000 genomes]
rs4299551	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4693140	0.85[AMR][1000 genomes]
rs4693762	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4693763	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55681806	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56255533	0.81[AMR][1000 genomes]
rs57869802	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58538747	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60753208	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62305546	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62307365	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62307366	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62307367	0.84[AMR][1000 genomes]
rs62307454	0.81[AMR][1000 genomes]
rs6827483	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688651	0.86[AMR][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	nsv1003585	chr4:86957967-87250436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv934210	chr4:87197339-87325578	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:87212800-87219000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:87215000-87222600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:87215200-87219000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:87215200-87222200	Weak transcription	Aorta	Aorta
5	chr4:87215400-87222200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:87215600-87223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:87215800-87219000	Weak transcription	Ovary	ovary
8	chr4:87215800-87223400	Weak transcription	HSMMtube	muscle
9	chr4:87216000-87222000	Weak transcription	Brain Germinal Matrix	brain
10	chr4:87216200-87221600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:87216200-87222200	Weak transcription	Fetal Stomach	stomach
12	chr4:87216200-87223800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:87216200-87231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:87216400-87222200	Weak transcription	Brain Anterior Caudate	brain
15	chr4:87216400-87222800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:87217200-87218400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:87217400-87218000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:87217400-87218200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:87217400-87218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:87217400-87218800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:87217400-87228200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:87217600-87218000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:87217600-87218600	Enhancers	HUES64 Cell Line	embryonic stem cell

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