Variant report

Variant	rs294968
Chromosome Location	chr5:151558198-151558199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs154095	0.86[CHB][hapmap]
rs294953	0.89[ASN][1000 genomes]
rs294957	0.89[ASN][1000 genomes]
rs294960	0.80[MEX][hapmap]
rs294961	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs294962	1.00[ASN][1000 genomes]
rs294964	0.87[CHB][hapmap];0.80[MEX][hapmap]
rs295910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];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	esv2760935	chr5:151463117-151586051	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv883040	chr5:151471642-151596273	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1023828	chr5:151522149-151956217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv5073	chr5:151551846-151597040	Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs294968	AFAP1L1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151556400-151558200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr5:151556600-151558200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:151556600-151558400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:151557000-151558200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:151557000-151558400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:151557200-151558200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:151557200-151558200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:151557400-151558200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:151557400-151558200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr5:151557600-151558200	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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