Variant report

Variant	rs7301741
Chromosome Location	chr12:30145167-30145168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12809094	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12809677	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12809882	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12810035	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12811534	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12812656	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12812911	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12816189	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12816528	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12816561	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12816569	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12817644	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12817837	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12821646	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12822342	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12831913	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1872212	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1909162	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1909163	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1909164	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1909165	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1909168	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35348803	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35377402	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs36124845	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4306352	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6487869	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67137600	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7301390	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7954953	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7955000	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7955127	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7963484	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7978565	0.89[AMR][1000 genomes];0.86[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv826295	chr12:30130336-30207775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7301741	C12orf70	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30143800-30145400	Enhancers	NH-A	brain
2	chr12:30144800-30145400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:30144800-30145600	Enhancers	Hela-S3	cervix

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