Variant report

Variant	rs694060
Chromosome Location	chr1:57743244-57743245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12132898	0.87[CHD][hapmap]
rs12136930	0.86[CHD][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]

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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2754702	chr1:57716116-57743244	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs694060	ACOT11	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57735200-57747200	Weak transcription	Esophagus	oesophagus
2	chr1:57737400-57746800	Weak transcription	Fetal Brain Female	brain
3	chr1:57737600-57744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:57741800-57749400	Enhancers	Fetal Intestine Small	intestine
5	chr1:57742000-57749200	Enhancers	Liver	Liver
6	chr1:57742200-57755400	Weak transcription	Fetal Brain Male	brain
7	chr1:57742400-57743400	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:57743000-57744400	Genic enhancers	Fetal Intestine Large	intestine
9	chr1:57743200-57743800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:57743200-57744000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:57743200-57745600	Enhancers	NHEK	skin

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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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