Variant report

Variant	rs10426528
Chromosome Location	chr19:44299298-44299299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10401170	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10401203	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10405457	0.81[ASN][1000 genomes]
rs10421887	0.81[ASN][1000 genomes]
rs10422990	0.81[ASN][1000 genomes]
rs11665924	0.92[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap]
rs12460161	0.81[ASN][1000 genomes]
rs12974061	0.81[ASN][1000 genomes]
rs349045	0.89[ASW][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.84[MEX][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs349046	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs349047	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs349048	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs349049	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs349050	1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs349053	0.97[ASN][1000 genomes]
rs349055	0.92[ASN][1000 genomes]
rs3760982	0.92[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap]
rs3760983	0.92[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap]
rs56103707	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56344893	0.81[ASN][1000 genomes]
rs56681946	0.81[ASN][1000 genomes]
rs60184524	0.81[ASN][1000 genomes]
rs62116990	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62116991	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73048670	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8104447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111664	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10426528	ZNF296	cis	parietal	SCAN
rs10426528	ZNF296	cis	cerebellum	SCAN
rs10426528	AC115522.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10426528	KCNN4	cis	multi-tissue	Pritchard
rs10426528	KCNN4	cis	Whole Blood	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44289800-44300800	Weak transcription	Placenta	Placenta
3	chr19:44290000-44302400	Weak transcription	NHEK	skin
4	chr19:44290200-44302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:44298400-44300000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:44299000-44302000	Weak transcription	Brain Angular Gyrus	brain

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