Variant report

Variant	rs13257749
Chromosome Location	chr8:86217265-86217266
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11995864	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs13278559	1.00[MKK][hapmap]
rs28374574	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv971674	chr8:86187966-86338484	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	esv2761442	chr8:86201657-86230641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13257749	C8orf59	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86197400-86225800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:86211600-86222000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:86215800-86217800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:86216200-86217800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:86216400-86217600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:86216400-86217600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:86216400-86217600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:86216600-86217400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:86216600-86217800	Enhancers	Placenta	Placenta
10	chr8:86217000-86217600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr8:86217200-86217400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:86217200-86217600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:86217200-86217600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:86217200-86217800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:86217200-86217800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:86217200-86217800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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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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