Variant report

Variant	rs6986220
Chromosome Location	chr8:53246682-53246683
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10090507	1.00[AMR][1000 genomes]
rs10094797	1.00[AMR][1000 genomes]
rs10101317	1.00[AMR][1000 genomes]
rs10109282	1.00[AMR][1000 genomes]
rs10283213	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675191	1.00[AMR][1000 genomes]
rs7816526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817380	chr8:53207304-54016570	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1032281	chr8:53241539-53383025	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831317	chr8:53245921-53413275	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:53243400-53251600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:53243600-53247200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:53243600-53247200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:53243600-53250200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:53243600-53251600	Weak transcription	Brain Germinal Matrix	brain
6	chr8:53243800-53249600	Weak transcription	Brain Anterior Caudate	brain
7	chr8:53244400-53249600	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:53244400-53249800	Weak transcription	Brain Substantia Nigra	brain
9	chr8:53246000-53251200	Weak transcription	Stomach Mucosa	stomach
10	chr8:53246200-53250000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:53246400-53249800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:53246400-53250000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:53246600-53255800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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