Variant report

Variant	rs10878698
Chromosome Location	chr12:68328689-68328690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10878720	0.94[MEX][hapmap]
rs10878721	0.83[MEX][hapmap]
rs11176948	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11176949	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11176954	0.87[MEX][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11176959	0.84[ASN][1000 genomes]
rs11610897	1.00[ASW][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs11614985	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12370235	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17104564	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2302627	0.83[AMR][1000 genomes];0.88[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10878698	RPSAP52	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68310600-68329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:68318200-68334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:68320600-68331800	Weak transcription	Left Ventricle	heart
4	chr12:68324200-68332600	Weak transcription	Psoas Muscle	Psoas
5	chr12:68324200-68333200	Weak transcription	Fetal Heart	heart
6	chr12:68324800-68328800	Weak transcription	Stomach Mucosa	stomach
7	chr12:68324800-68332600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:68326200-68332800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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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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