Variant report

Variant	rs7004346
Chromosome Location	chr8:104922969-104922970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12114257	1.00[AMR][1000 genomes]
rs12115119	1.00[AMR][1000 genomes]
rs13249634	0.84[YRI][hapmap]
rs55738066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60412815	1.00[AMR][1000 genomes]
rs60552383	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61042766	1.00[AMR][1000 genomes]
rs61589769	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6990477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7017687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7018117	0.84[AFR][1000 genomes]
rs73697653	1.00[AMR][1000 genomes]
rs73697657	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697668	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697683	1.00[AMR][1000 genomes]
rs73697684	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697688	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697690	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697694	1.00[AMR][1000 genomes]
rs73697695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697696	1.00[AMR][1000 genomes]
rs73697698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841801	1.00[AMR][1000 genomes]
rs9918740	0.83[AFR][1000 genomes];1.00[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	nsv1020476	chr8:104312212-104924482	Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539704	chr8:104312212-104924482	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2752692	chr8:104520824-105123824	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1016387	chr8:104578389-104931853	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1031195	chr8:104601231-105194208	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv831415	chr8:104907757-105115320	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104899400-104933400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104914800-104926000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:104919600-104938600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:104922400-104923800	Enhancers	Fetal Intestine Small	intestine
5	chr8:104922600-104923000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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