Variant report

Variant	rs4456365
Chromosome Location	chr13:97818514-97818515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10220223	0.85[CEU][hapmap]
rs16953899	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301278	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2282424	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4445760	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57348783	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57806253	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59695980	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61107763	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7317886	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7317904	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7322677	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7322973	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7332127	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332327	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7337250	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7338056	0.89[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7338420	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338629	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7983632	0.86[EUR][1000 genomes]
rs7983895	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7988998	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7989356	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7990235	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7990802	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7995449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996707	0.82[ASN][1000 genomes]
rs7997574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000282	0.85[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap]
rs9513209	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9513210	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9513211	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9513214	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9513215	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9513216	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9513221	0.85[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap]
rs9516832	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9516834	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9516835	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9516840	0.88[ASN][1000 genomes]
rs9516841	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9516843	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9516844	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516845	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516846	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516847	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516848	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516849	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516850	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9516853	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9516870	0.85[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap]
rs9516871	0.85[CEU][hapmap]
rs9516872	0.85[CEU][hapmap]

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	nsv1137	chr13:97803474-97848814	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4456365	MBNL2	cis	multi-tissue	Pritchard
rs4456365	FARP1	cis	lymphoblastoid	seeQTL
rs4456365	RAP2A	cis	parietal	SCAN
rs4456365	GPC5	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97816200-97824200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:97816200-97830600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:97817000-97819200	Enhancers	Stomach Mucosa	stomach
4	chr13:97817800-97818600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:97817800-97818800	Enhancers	HepG2	liver
6	chr13:97818000-97818800	Enhancers	Liver	Liver
7	chr13:97818400-97818600	Flanking Active TSS	A549	lung

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