Variant report

Variant	rs299218
Chromosome Location	chr5:118396039-118396040
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11958239	0.89[EUR][1000 genomes]
rs11959739	1.00[ASN][1000 genomes]
rs17144872	1.00[CEU][hapmap]
rs17144877	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17144883	1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs17144885	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs299216	1.00[ASN][1000 genomes]
rs4243445	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4392657	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs55741500	0.84[EUR][1000 genomes]
rs55805551	0.86[EUR][1000 genomes]
rs56664193	0.90[EUR][1000 genomes]
rs6595177	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6859673	1.00[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	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs299218	DTWD2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118386000-118399200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:118386600-118399200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:118386600-118399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118386600-118399400	Weak transcription	HSMMtube	muscle
5	chr5:118394400-118397000	Enhancers	K562	blood
6	chr5:118395600-118396400	Enhancers	Primary B cells from peripheral blood	blood
7	chr5:118395800-118396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:118396000-118399000	Weak transcription	GM12878-XiMat	blood
9	chr5:118396000-118399200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:118396000-118405600	Weak transcription	Primary B cells from cord blood	blood

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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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