Variant report

Variant	rs1720011
Chromosome Location	chr4:8333694-8333695
allele	A/G
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:49)

rs_ID	r²[population]
rs1017810	0.91[CEU][hapmap];0.85[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1017811	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1017812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650298	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13114162	0.93[ASN][1000 genomes]
rs13134969	0.93[ASN][1000 genomes]
rs13135339	0.93[ASN][1000 genomes]
rs13144312	0.93[ASN][1000 genomes]
rs13144515	0.93[ASN][1000 genomes]
rs13144781	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1474313	0.93[ASN][1000 genomes]
rs1474315	0.93[ASN][1000 genomes]
rs1626381	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1678311	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1678317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1678318	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678322	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678325	0.91[ASN][1000 genomes]
rs1678326	0.93[ASN][1000 genomes]
rs1678327	0.93[ASN][1000 genomes]
rs1678328	0.93[ASN][1000 genomes]
rs1678329	0.93[ASN][1000 genomes]
rs1678330	0.93[ASN][1000 genomes]
rs1720008	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1720010	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720013	0.95[ASN][1000 genomes]
rs1720015	0.93[ASN][1000 genomes]
rs1720018	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1720019	0.93[ASN][1000 genomes]
rs1720020	0.93[ASN][1000 genomes]
rs1720021	0.93[ASN][1000 genomes]
rs1966979	0.93[ASN][1000 genomes]
rs2127294	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6447861	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6447863	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6818359	0.95[ASN][1000 genomes]
rs7670088	0.93[ASN][1000 genomes]
rs7686238	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7690955	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs827016	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs827018	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs827019	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827021	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs899492	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940140	0.93[ASN][1000 genomes]
rs940141	0.93[ASN][1000 genomes]
rs940142	0.93[ASN][1000 genomes]
rs976387	0.93[ASN][1000 genomes]
rs976388	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8325600-8338400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:8330400-8334200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:8331000-8334200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:8331200-8334600	Enhancers	Right Ventricle	heart
5	chr4:8332400-8335200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:8332800-8335800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:8333000-8336800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8333400-8342400	Weak transcription	Psoas Muscle	Psoas
9	chr4:8333400-8342400	Weak transcription	Right Atrium	heart
10	chr4:8333600-8334800	Weak transcription	Left Ventricle	heart
11	chr4:8333600-8336600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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