Variant report

Variant	rs9567809
Chromosome Location	chr13:47785343-47785344
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]
rs2897318	0.86[ASN][1000 genomes]
rs7331421	0.82[ASN][1000 genomes]
rs9285160	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9562713	0.82[ASN][1000 genomes]
rs9562714	0.86[ASN][1000 genomes]
rs9562715	0.86[ASN][1000 genomes]
rs9562718	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9562723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9562725	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9567802	0.82[ASN][1000 genomes]
rs9567810	0.94[AFR][1000 genomes];1.00[AMR][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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832599	chr13:47703075-47873855	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47784600-47785600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:47784600-47785600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr13:47784600-47785600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:47784600-47786600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:47784600-47786600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr13:47784600-47786800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr13:47784600-47786800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:47784600-47787000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr13:47784600-47787000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:47784800-47786000	Enhancers	NH-A	brain
11	chr13:47784800-47786600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:47784800-47787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:47784800-47790200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:47785000-47785800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:47785000-47785800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:47785000-47785800	Enhancers	HMEC	breast
17	chr13:47785000-47786000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:47785000-47787800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:47785200-47785600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:47785200-47785600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:47785200-47785800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:47785200-47785800	Enhancers	HSMMtube	muscle
23	chr13:47785200-47786000	Enhancers	NHEK	skin

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