Variant report

Variant	rs1125312
Chromosome Location	chr9:78851044-78851045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10746997	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10781348	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10781349	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10781352	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10869736	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10869737	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10869740	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144801	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11144804	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1587103	0.82[ASN][1000 genomes]
rs4745529	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60800515	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853361	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs883225	0.81[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	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv893476	chr9:78768830-78887992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78839600-78853800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:78841200-78859400	Weak transcription	Colonic Mucosa	Colon
3	chr9:78843200-78851400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:78844400-78859000	Strong transcription	Fetal Intestine Large	intestine
5	chr9:78848200-78853200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:78849200-78852800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr9:78849400-78852800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:78850000-78852400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:78850000-78854000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:78850800-78852600	Weak transcription	Duodenum Mucosa	Duodenum

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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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