Variant report

Variant	rs9316265
Chromosome Location	chr13:47784618-47784619
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11842246	0.84[EUR][1000 genomes]
rs17069575	0.81[EUR][1000 genomes]
rs17069577	0.81[EUR][1000 genomes]
rs58611201	0.81[EUR][1000 genomes]
rs61003241	0.81[EUR][1000 genomes]
rs7330154	0.83[ASN][1000 genomes]
rs73485231	0.81[EUR][1000 genomes]
rs73485299	0.81[EUR][1000 genomes]
rs73485302	0.81[EUR][1000 genomes]
rs7492065	1.00[EUR][1000 genomes]
rs9595618	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9595619	1.00[EUR][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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47783400-47785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr13:47784200-47784800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr13:47784600-47784800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr13:47784600-47784800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:47784600-47785600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:47784600-47785600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr13:47784600-47785600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:47784600-47786600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:47784600-47786600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:47784600-47786800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr13:47784600-47786800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:47784600-47787000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:47784600-47787000	Enhancers	hESC Derived CD56+ Mesoderm 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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