Variant report

Variant	rs9595723
Chromosome Location	chr13:48058304-48058305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1409483	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17070149	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130147	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4131976	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4257112	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4284535	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4303377	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4383047	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4470048	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4622408	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4627222	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4941592	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942642	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61951795	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7140005	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7322715	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7984261	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7984310	0.81[ASN][1000 genomes]
rs7988780	0.82[ASN][1000 genomes]
rs9526339	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9526340	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526341	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526342	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9534658	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534659	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534661	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534662	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9534663	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9534664	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9534665	0.83[EUR][1000 genomes]
rs9534666	0.83[EUR][1000 genomes]
rs9567872	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591064	0.82[ASN][1000 genomes]
rs9595722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48054200-48058600	Weak transcription	HSMM	muscle
2	chr13:48054400-48058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:48054400-48058600	Weak transcription	NH-A	brain
4	chr13:48054400-48058600	Weak transcription	NHDF-Ad	bronchial
5	chr13:48054400-48058600	Weak transcription	Osteobl	bone
6	chr13:48054600-48058600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:48056000-48058800	Weak transcription	HSMMtube	muscle
8	chr13:48056600-48058400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:48056600-48064200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:48057600-48058800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr13:48057600-48059400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:48057800-48058400	Enhancers	Esophagus	oesophagus
13	chr13:48057800-48058400	Enhancers	Left Ventricle	heart
14	chr13:48057800-48058400	Enhancers	Pancreas	Pancrea
15	chr13:48057800-48058600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:48057800-48059200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr13:48057800-48059400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr13:48058000-48059200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:48058200-48058400	Enhancers	Gastric	stomach
20	chr13:48058200-48059400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:48058200-48059400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:48058200-48059400	Enhancers	HMEC	breast
23	chr13:48058200-48059400	Enhancers	NHEK	skin
24	chr13:48058200-48059400	Enhancers	NHLF	lung
25	chr13:48058200-48059800	Enhancers	Muscle Satellite Cultured Cells	--

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