Variant report

Variant	rs9596947
Chromosome Location	chr13:54903593-54903594
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10467532	0.89[EUR][1000 genomes]
rs4378517	0.83[ASN][1000 genomes]
rs4884974	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7993923	0.86[ASN][1000 genomes]
rs9536674	0.89[EUR][1000 genomes]
rs9536675	0.89[EUR][1000 genomes]
rs9536683	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9536685	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9536686	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9591577	0.85[ASN][1000 genomes]
rs9591580	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9596950	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3375545	chr13:54517432-54908108	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1051063	chr13:54777487-54997866	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv541778	chr13:54777487-54997866	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	esv3349795	chr13:54892694-55252030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr13:54880000-54929800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:54892600-54903800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr13:54892800-54923000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:54898600-54905000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:54902800-54903800	Enhancers	Fetal Heart	heart
6	chr13:54903000-54904000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:54903000-54905200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr13:54903000-54905200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr13:54903200-54905400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr13:54903400-54905600	ZNF genes & repeats	hESC Derived CD184+ Endoderm 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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