Variant report

Variant	rs11939345
Chromosome Location	chr4:147290363-147290364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10008275	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10010528	0.92[ASN][1000 genomes]
rs10013722	0.92[ASN][1000 genomes]
rs10027135	0.96[ASN][1000 genomes]
rs11735261	0.80[ASN][1000 genomes]
rs11736003	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737121	0.98[ASN][1000 genomes]
rs11947781	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17021396	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2200474	0.98[ASN][1000 genomes]
rs2357076	0.84[AFR][1000 genomes]
rs28521842	0.92[ASN][1000 genomes]
rs28625764	0.96[ASN][1000 genomes]
rs4835033	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835292	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4835294	0.88[ASN][1000 genomes]
rs4835296	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835297	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835299	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798872	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57713263	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6846294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846584	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846846	0.98[ASN][1000 genomes]
rs6857911	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9784436	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9784437	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9999381	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv3400231	chr4:147269396-147292066	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147276200-147292400	Weak transcription	Aorta	Aorta
2	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
3	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
4	chr4:147287200-147293400	Weak transcription	Pancreas	Pancrea
5	chr4:147287600-147292000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:147288000-147290400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:147288000-147290400	Enhancers	Brain Angular Gyrus	brain
8	chr4:147288000-147292400	Enhancers	Fetal Heart	heart
9	chr4:147288200-147290400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:147288800-147293800	Enhancers	HUVEC	blood vessel
11	chr4:147289000-147291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr4:147289200-147290400	Enhancers	Ovary	ovary
13	chr4:147289400-147290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:147289400-147291800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:147289600-147290600	Enhancers	Brain Anterior Caudate	brain
16	chr4:147289600-147291400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:147289800-147290600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:147289800-147291600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:147290000-147291200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:147290200-147290400	Enhancers	Brain Hippocampus Middle	brain

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