Variant report

Variant	rs11988818
Chromosome Location	chr8:95817566-95817567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10091683	0.84[ASN][1000 genomes]
rs12550765	0.84[ASN][1000 genomes]
rs4076061	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735310	0.84[ASN][1000 genomes]
rs4735312	0.83[ASN][1000 genomes]
rs5002591	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471497	0.84[ASN][1000 genomes]
rs6471498	0.83[ASN][1000 genomes]
rs7817845	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7839728	0.84[ASN][1000 genomes]
rs9643348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95810200-95818800	Weak transcription	K562	blood
2	chr8:95810200-95819600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:95815800-95826600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:95817000-95818000	Enhancers	Fetal Intestine Small	intestine
5	chr8:95817200-95817600	Enhancers	Duodenum Mucosa	Duodenum
6	chr8:95817200-95817800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:95817200-95818000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr8:95817200-95818400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:95817400-95817800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:95817400-95818000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:95817400-95820800	Weak transcription	H1 BMP4 Derived Mesendoderm 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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