Variant report

Variant	rs58376816
Chromosome Location	chr7:48291831-48291832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12112998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12113727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132168	0.95[AFR][1000 genomes]
rs17132180	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132219	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1949896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1949897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4265139	0.88[AFR][1000 genomes]
rs58365651	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341723	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48286000-48292800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:48289000-48295200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:48289800-48292200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:48289800-48292800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:48290400-48292200	Enhancers	GM12878-XiMat	blood
6	chr7:48290400-48299000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:48290600-48292600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:48290600-48292600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr7:48290600-48292800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:48290600-48294600	Weak transcription	NHEK	skin
11	chr7:48290800-48292600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:48290800-48294200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:48290800-48299000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:48291000-48292000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:48291000-48292200	Weak transcription	Fetal Heart	heart
16	chr7:48291000-48294200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:48291000-48294200	Weak transcription	Osteobl	bone
18	chr7:48291200-48292800	Weak transcription	HMEC	breast
19	chr7:48291200-48294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:48291800-48294200	Weak transcription	NH-A	brain

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