Variant report

Variant	rs17069559
Chromosome Location	chr13:47704276-47704277
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12876339	0.80[EUR][1000 genomes]
rs17069594	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17069598	0.89[EUR][1000 genomes]
rs35091833	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61952819	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6561355	0.93[EUR][1000 genomes]
rs71432947	0.89[EUR][1000 genomes]
rs71432948	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv455877	chr13:47701640-47728087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv561584	chr13:47701640-47728087	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47701200-47705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:47702800-47705000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:47703200-47705200	Enhancers	Primary hematopoietic stem cells	blood
4	chr13:47703400-47704400	Enhancers	Stomach Smooth Muscle	stomach
5	chr13:47703800-47704400	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr13:47703800-47705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:47703800-47706800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:47704000-47704800	Enhancers	Fetal Stomach	stomach
9	chr13:47704200-47704400	Enhancers	Fetal Muscle Leg	muscle

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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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