Variant report

Variant	rs6651129
Chromosome Location	chr7:83729251-83729252
allele	G/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:26)

rs_ID	r²[population]
rs10259508	0.84[EUR][1000 genomes]
rs10261415	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10263314	0.82[EUR][1000 genomes]
rs10808306	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12707619	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1468345	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1468346	0.83[EUR][1000 genomes]
rs2040872	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2067693	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2158566	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2189847	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2527037	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2691698	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2691700	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3801655	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4141151	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs447	0.84[EUR][1000 genomes]
rs6467988	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6964546	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6977099	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6978184	0.82[EUR][1000 genomes]
rs7781923	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7783472	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7785708	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7793598	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7808864	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83715600-83730200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:83715600-83731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:83718400-83735000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83721600-83735200	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:83722200-83734000	Weak transcription	Fetal Lung	lung
6	chr7:83722200-83734200	Weak transcription	NHDF-Ad	bronchial
7	chr7:83722200-83735800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:83722200-83737600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:83722200-83738400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:83723400-83729400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:83724200-83737800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83727000-83736800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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