Variant report

Variant	rs58067650
Chromosome Location	chr8:125175012-125175013
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11993745	1.00[AMR][1000 genomes]
rs58421112	1.00[AMR][1000 genomes]
rs58590827	0.88[AFR][1000 genomes]
rs59006162	0.88[AFR][1000 genomes]
rs59080602	1.00[AMR][1000 genomes]
rs59527092	1.00[AMR][1000 genomes]
rs60439335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61048327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73334215	1.00[AMR][1000 genomes]
rs73334218	1.00[AMR][1000 genomes]
rs73334219	1.00[AMR][1000 genomes]
rs73334221	1.00[AMR][1000 genomes]
rs73334223	1.00[AMR][1000 genomes]
rs73334228	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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125172400-125177400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:125172800-125175200	Weak transcription	Brain Germinal Matrix	brain
3	chr8:125174800-125175200	Enhancers	Gastric	stomach
4	chr8:125174800-125175400	Enhancers	K562	blood
5	chr8:125174800-125175800	Enhancers	Brain Angular Gyrus	brain
6	chr8:125174800-125177000	Enhancers	Fetal Brain Male	brain
7	chr8:125174800-125177200	Enhancers	Fetal Brain Female	brain
8	chr8:125175000-125177400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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