Variant report

Variant	rs73883446
Chromosome Location	chr3:179691976-179691977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr3:179691749-179692330	HEK293-T-REx	kidney:	n/a	chr3:179692101-179692110
2	POLR2A	chr3:179691899-179692196	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
PEX5L	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11713683	0.87[ASN][1000 genomes]
rs13324196	0.83[AMR][1000 genomes]
rs13325206	0.90[AMR][1000 genomes]
rs1522115	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56397887	0.80[AMR][1000 genomes]
rs57729381	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6443685	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6443687	0.83[AMR][1000 genomes]
rs6443688	0.83[AMR][1000 genomes]
rs6787707	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6800148	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73883444	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73883462	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73883468	0.87[ASN][1000 genomes]
rs73883469	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73883479	0.83[AMR][1000 genomes]
rs7615924	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7630527	0.87[ASN][1000 genomes]
rs939824	0.83[AMR][1000 genomes]
rs939825	0.83[AMR][1000 genomes]
rs940522	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9809603	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9823631	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9870941	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9881655	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829807	chr3:179527567-179745153	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv829808	chr3:179574614-179754321	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv534210	chr3:179666123-179899347	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1000756	chr3:179672703-179827373	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179686800-179692000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:179686800-179692200	Active TSS	Brain Substantia Nigra	brain
3	chr3:179687400-179692200	Active TSS	Brain Anterior Caudate	brain
4	chr3:179688400-179692200	Active TSS	Brain Hippocampus Middle	brain
5	chr3:179688800-179692000	Active TSS	Brain Angular Gyrus	brain
6	chr3:179689400-179710200	Weak transcription	Fetal Brain Male	brain
7	chr3:179690200-179692200	Active TSS	Brain Cingulate Gyrus	brain
8	chr3:179690400-179692200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:179690800-179692200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:179690800-179692400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:179690800-179692600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:179691000-179692000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:179691200-179692000	Active TSS	Dnd41	blood
14	chr3:179691400-179692400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:179691400-179692400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:179691400-179692600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:179691600-179692000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:179691600-179692000	Flanking Active TSS	Fetal Thymus	thymus
19	chr3:179691600-179692000	Active TSS	GM12878-XiMat	blood
20	chr3:179691600-179692200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:179691600-179692200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:179691600-179692200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:179691600-179692400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:179691600-179692400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:179691600-179692400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:179691800-179692200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:179691800-179692200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:179691800-179692200	Flanking Active TSS	Thymus	Thymus
29	chr3:179691800-179692200	Enhancers	Osteobl	bone
30	chr3:179691800-179692400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:179691800-179692400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:179691800-179692400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:179691800-179692400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:179691800-179692400	Enhancers	Pancreas	Pancrea

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