Variant report

Variant	rs56119417
Chromosome Location	chr9:110390544-110390545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10978949	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10978950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788199	0.81[AMR][1000 genomes]
rs11788586	0.81[AMR][1000 genomes]
rs11792341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv831683	chr9:110275212-110461288	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv893700	chr9:110365337-110451516	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110387000-110399600	Weak transcription	Colonic Mucosa	Colon
2	chr9:110389200-110391200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr9:110389600-110390800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr9:110389800-110391000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:110390000-110390800	Enhancers	Fetal Muscle Trunk	muscle
6	chr9:110390000-110390800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr9:110390000-110391800	Enhancers	Stomach Mucosa	stomach
8	chr9:110390200-110391200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:110390200-110394000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr9:110390400-110391000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr9:110390400-110393400	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:110390400-110394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:110390400-110399600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr9:110390400-110400000	Weak transcription	H1 Derived Neuronal Progenitor 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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