Variant report

Variant	rs7324232
Chromosome Location	chr13:51481642-51481643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17074987	0.84[ASW][hapmap];0.84[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.88[TSI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2038718	0.82[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2274069	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4941677	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4941678	0.85[ASN][1000 genomes]
rs4942943	0.91[CEU][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.80[LWK][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs59310144	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6561599	0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6561602	0.86[CHD][hapmap]
rs6561603	0.87[ASN][1000 genomes]
rs730076	0.82[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs7316955	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs7317618	0.82[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7319356	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7321027	0.90[ASN][1000 genomes]
rs7329171	0.82[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7335206	0.84[ASN][1000 genomes]
rs7988945	0.84[ASW][hapmap];0.86[CHD][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.81[AFR][1000 genomes]
rs9316512	0.82[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9535523	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9535526	0.93[CHD][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9535535	0.82[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7324232	RNASEH2B	cis	Esophagus Muscularis	GTEx
rs7324232	RNASEH2B	cis	Artery Tibial	GTEx
rs7324232	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	chr13:51479800-51482000	Weak transcription	Thymus	Thymus
8	chr13:51480200-51482000	Weak transcription	Fetal Thymus	thymus
9	chr13:51480200-51483600	Weak transcription	Esophagus	oesophagus
10	chr13:51481600-51483200	Enhancers	Dnd41	blood

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