Variant report

Variant	rs9318382
Chromosome Location	chr13:76481000-76481001
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11616640	1.00[YRI][hapmap]
rs13378536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41287014	1.00[EUR][1000 genomes]
rs41307595	0.90[EUR][1000 genomes]
rs58829651	0.87[EUR][1000 genomes]
rs66538840	0.87[EUR][1000 genomes]
rs68188615	0.83[EUR][1000 genomes]
rs7322777	0.86[EUR][1000 genomes]
rs73227983	0.81[AMR][1000 genomes]
rs73227994	0.86[EUR][1000 genomes]
rs73227996	0.86[EUR][1000 genomes]
rs73229911	0.95[EUR][1000 genomes]
rs73229981	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001457	0.87[EUR][1000 genomes]
rs9318383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9573666	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs9573669	0.82[EUR][1000 genomes]
rs9573670	0.95[EUR][1000 genomes]
rs9593139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9600589	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9600591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9600592	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9600594	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1054431	chr13:76460431-76885094	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv541837	chr13:76460431-76885094	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76476400-76481000	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:76476400-76481000	Weak transcription	Fetal Stomach	stomach
3	chr13:76476600-76482000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr13:76476600-76482200	Weak transcription	Left Ventricle	heart
5	chr13:76477200-76481000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:76477200-76481200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:76478600-76486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:76478800-76481800	Weak transcription	Fetal Heart	heart
9	chr13:76478800-76481800	Weak transcription	Fetal Lung	lung
10	chr13:76478800-76482200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:76480200-76481000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:76480400-76481600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr13:76480600-76481600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:76480600-76481600	Enhancers	Ovary	ovary
15	chr13:76480600-76481800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:76480800-76481400	Enhancers	Psoas Muscle	Psoas
17	chr13:76480800-76481800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:76481000-76482400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:76481000-76482400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:76481000-76482600	Enhancers	Fetal Muscle Leg	muscle
21	chr13:76481000-76483000	Enhancers	Fetal Stomach	stomach

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