Variant report

Variant	rs7790233
Chromosome Location	chr7:144990255-144990256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1002527	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10255844	0.88[ASN][1000 genomes]
rs10271795	0.87[ASN][1000 genomes]
rs10952614	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10952616	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11765651	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11976907	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12112673	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12673814	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468374	0.87[ASN][1000 genomes]
rs1468375	0.88[ASN][1000 genomes]
rs17805910	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17806163	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1859565	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023995	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2107891	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2190081	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2371963	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4726755	0.88[ASN][1000 genomes]
rs4726756	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4726758	0.88[ASN][1000 genomes]
rs57132884	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57524854	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59098873	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62495645	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62495646	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62495647	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62495920	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62495921	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62495922	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62495923	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6464672	0.82[ASN][1000 genomes]
rs67346243	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6972400	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7779709	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7779731	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7780174	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7780968	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7792751	0.87[ASN][1000 genomes]
rs7799717	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031071	chr7:144318082-145125392	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv539169	chr7:144318082-145125392	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv831179	chr7:144830077-144998851	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1026420	chr7:144902627-145020612	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv971561	chr7:144969351-145014828	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7790233	TRPV5	cis	parietal	SCAN
rs7790233	TRPV6	cis	parietal	SCAN
rs7790233	KEL	cis	parietal	SCAN
rs7790233	SNORD41	trans	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144989000-144992000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:144989400-144992000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:144990000-144991200	Enhancers	Fetal Stomach	stomach
4	chr7:144990000-144991400	Enhancers	Fetal Lung	lung
5	chr7:144990200-144991200	Enhancers	Fetal Muscle Leg	muscle

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