Variant report

Variant	rs2503399
Chromosome Location	chr13:48047041-48047042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1340349	1.00[YRI][hapmap]
rs1340350	1.00[YRI][hapmap]
rs1417203	0.91[AFR][1000 genomes]
rs2247288	1.00[AFR][1000 genomes]
rs2487005	0.96[AFR][1000 genomes]
rs2503400	1.00[AFR][1000 genomes]
rs7986683	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9526336	1.00[YRI][hapmap]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48045600-48048400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:48046200-48047200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr13:48046200-48047200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:48046400-48047200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr13:48046400-48047200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr13:48046400-48047200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:48046400-48047200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:48046400-48047200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr13:48046400-48047200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:48046400-48047200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:48046600-48047200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr13:48046800-48047200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:48046800-48047600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:48047000-48047200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr13:48047000-48047200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr13:48047000-48047200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr13:48047000-48047200	Enhancers	Hela-S3	cervix

Quick Search:

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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