Variant report

Variant	rs10064893
Chromosome Location	chr5:58531754-58531755
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10036406	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10038599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10055446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056754	1.00[LWK][hapmap]
rs10059709	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10061600	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10061786	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10062176	1.00[LWK][hapmap]
rs10068836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10070294	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10070436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075364	0.87[ASN][1000 genomes]
rs10440630	0.83[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap]
rs11738043	1.00[ASW][hapmap]
rs11740402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11747413	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328160	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.87[ASN][1000 genomes]
rs13328226	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap]
rs13356883	1.00[ASW][hapmap]
rs13360907	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17444059	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.87[ASN][1000 genomes]
rs17528257	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17528285	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528473	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.87[ASN][1000 genomes]
rs17780213	1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs1824159	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2112959	1.00[CHB][hapmap];0.89[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap]
rs28529077	0.87[ASN][1000 genomes]
rs28647633	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57516309	0.85[AMR][1000 genomes]
rs60453299	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6881054	1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs72765932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72765942	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72765953	0.87[ASN][1000 genomes]
rs72765961	0.87[ASN][1000 genomes]
rs72765993	0.85[AMR][1000 genomes]
rs9292206	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1023570	chr5:58486384-58537849	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv881703	chr5:58517918-58540847	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1025807	chr5:58520050-58548231	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv520721	chr5:58520735-58558388	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10064893	ZNF266	trans	brain	seeQTL
rs10064893	IPO11	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
2	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
3	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:58521400-58532800	Weak transcription	Hela-S3	cervix
5	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
6	chr5:58529400-58532000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr5:58529600-58533400	Enhancers	Fetal Heart	heart
8	chr5:58529800-58535000	Weak transcription	Right Atrium	heart
9	chr5:58531000-58532400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:58531000-58532600	Enhancers	Psoas Muscle	Psoas
11	chr5:58531000-58537600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:58531200-58531800	Weak transcription	HUVEC	blood vessel
13	chr5:58531200-58534600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:58531400-58532200	Enhancers	A549	lung
15	chr5:58531600-58532600	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:58531600-58533400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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