Variant report

Variant	rs10088414
Chromosome Location	chr8:104918122-104918123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10086186	1.00[AMR][1000 genomes]
rs10087617	1.00[AFR][1000 genomes]
rs10088886	1.00[AFR][1000 genomes]
rs10089984	1.00[AFR][1000 genomes]
rs10090513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10091132	0.89[AFR][1000 genomes]
rs10093565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10095442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10096578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10097302	1.00[AFR][1000 genomes]
rs10097620	1.00[AFR][1000 genomes]
rs10098633	0.88[AFR][1000 genomes]
rs10100425	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10104636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10107602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12334905	0.88[AFR][1000 genomes]
rs13439878	1.00[AMR][1000 genomes]
rs1521064	1.00[AFR][1000 genomes]
rs17816538	0.89[AFR][1000 genomes]
rs1895896	1.00[AFR][1000 genomes]
rs28538941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28569274	0.89[AFR][1000 genomes]
rs28572253	0.89[AFR][1000 genomes]
rs28576535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28667874	1.00[AFR][1000 genomes]
rs28697136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28716856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28782537	1.00[AFR][1000 genomes]
rs28840419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28872263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28884544	0.84[AFR][1000 genomes]
rs9656859	1.00[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	chr8:104898200-104919000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104899400-104933400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:104914800-104926000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:104916000-104918200	Enhancers	Fetal Intestine Large	intestine
5	chr8:104917400-104918200	Enhancers	Fetal Intestine Small	intestine

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