Variant report

Variant	rs4941593
Chromosome Location	chr13:48071895-48071896
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2478322	0.87[AFR][1000 genomes]
rs2478323	0.87[AFR][1000 genomes]
rs2478324	0.87[AFR][1000 genomes]
rs2503423	1.00[AFR][1000 genomes]
rs2503447	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4299053	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4300533	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4310755	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4941591	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942643	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561390	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6650371	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7325143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7336695	0.81[ASN][1000 genomes]
rs9526338	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9562742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9567873	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	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	esv3450125	chr13:47919050-48236684	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv455879	chr13:47919611-48190106	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv561588	chr13:47943829-48190106	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48065400-48072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:48071200-48072200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:48071200-48075200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:48071400-48072400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:48071400-48072400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:48071600-48072000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:48071600-48072200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:48071600-48072200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:48071600-48073400	Enhancers	Hela-S3	cervix
10	chr13:48071800-48072200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr13:48071800-48072800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr13:48071800-48073600	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:48071800-48073600	Weak transcription	Brain Hippocampus Middle	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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