Variant report

Variant	rs7319356
Chromosome Location	chr13:51481397-51481398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2038718	0.83[ASN][1000 genomes]
rs2274069	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4941678	0.85[ASN][1000 genomes]
rs6561599	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6561601	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561603	0.86[ASN][1000 genomes]
rs730076	0.83[ASN][1000 genomes]
rs7316955	0.89[ASN][1000 genomes]
rs7317618	0.83[ASN][1000 genomes]
rs7321027	0.89[ASN][1000 genomes]
rs7324232	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7329171	0.83[ASN][1000 genomes]
rs7335206	0.83[ASN][1000 genomes]
rs9316512	0.83[ASN][1000 genomes]
rs9535523	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535526	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9535535	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900077	chr13:51446114-51514831	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7319356	RNASEH2B	cis	Esophagus Muscularis	GTEx
rs7319356	RNASEH2B	cis	Artery Tibial	GTEx
rs7319356	RNASEH2B	cis	Thyroid	GTEx
rs7319356	RNASEH2B	cis	Stomach	GTEx
rs7319356	RNASEH2B	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51469000-51483400	Weak transcription	Fetal Lung	lung
2	chr13:51472800-51483400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:51475400-51483600	Weak transcription	Left Ventricle	heart
4	chr13:51476000-51483800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:51476400-51483400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:51477200-51483400	Weak transcription	Fetal Brain Female	brain
7	chr13:51477400-51481600	Weak transcription	Dnd41	blood
8	chr13:51479800-51482000	Weak transcription	Thymus	Thymus
9	chr13:51480200-51482000	Weak transcription	Fetal Thymus	thymus
10	chr13:51480200-51483600	Weak transcription	Esophagus	oesophagus

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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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