Variant report

Variant	rs294953
Chromosome Location	chr5:151550993-151550994
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:9)

rs_ID	r²[population]
rs154095	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]
rs294957	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs294960	0.82[CHB][hapmap]
rs294961	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs294962	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs294964	0.83[CHB][hapmap]
rs294968	0.89[ASN][1000 genomes]
rs295910	0.89[ASN][1000 genomes]
rs787751	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs294953	ANXA6	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151548800-151551600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:151549400-151551000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:151550000-151552000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:151550200-151551800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:151550400-151551600	Weak transcription	Ovary	ovary
6	chr5:151550400-151551800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:151550400-151551800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:151550400-151554000	Weak transcription	Aorta	Aorta
9	chr5:151550600-151551600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:151550600-151553800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:151550800-151551800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:151550800-151551800	Enhancers	HUES64 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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