Variant report

Variant	rs67243448
Chromosome Location	chr3:109645594-109645595
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10934004	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11920111	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11921803	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11924231	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11926268	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11928295	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12631286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12635802	0.92[ASN][1000 genomes]
rs12639076	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526310	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17663892	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17720523	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17720662	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28540300	0.92[ASN][1000 genomes]
rs34269140	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844044	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3844045	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3850565	0.92[ASN][1000 genomes]
rs3850566	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3915172	0.92[ASN][1000 genomes]
rs3915173	0.91[ASN][1000 genomes]
rs55701405	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55840771	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55848294	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55968628	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56100358	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56122872	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56175679	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61733710	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66800491	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66894762	0.92[ASN][1000 genomes]
rs67101148	0.92[ASN][1000 genomes]
rs67407655	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6765010	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6786269	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6786456	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6786633	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6791523	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6803300	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6804264	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68095772	0.91[ASN][1000 genomes]
rs72949915	0.96[ASN][1000 genomes]
rs73217653	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73217667	0.96[ASN][1000 genomes]
rs73217683	0.92[ASN][1000 genomes]
rs7649120	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9842743	0.92[ASN][1000 genomes]
rs9869678	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009075	chr3:109462019-109800029	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv591270	chr3:109462400-109793785	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877332	chr3:109575764-110186611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1009550	chr3:109577315-109795453	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1839660	chr3:109591203-109678542	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv829666	chr3:109593745-109768652	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2754434	chr3:109604310-109777310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv236806	chr3:109638554-109647641	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv963568	chr3:109644954-109655353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109640800-109646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:109641600-109646600	Weak transcription	HSMM	muscle
3	chr3:109643000-109646800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:109644000-109646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:109644200-109645600	Weak transcription	Hela-S3	cervix
6	chr3:109644400-109646200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:109645200-109645600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:109645200-109645600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:109645200-109646000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:109645200-109646200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:109645200-109646200	Flanking Active TSS	A549	lung
12	chr3:109645200-109647000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:109645200-109647000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:109645200-109647200	Enhancers	NH-A	brain
15	chr3:109645200-109647400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:109645200-109647400	Enhancers	HMEC	breast
17	chr3:109645400-109646600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:109645400-109647000	Enhancers	Osteobl	bone
19	chr3:109645400-109647200	Enhancers	NHEK	skin

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