Variant report

Variant	rs4936644
Chromosome Location	chr11:121597446-121597447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10736508	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10736509	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10736510	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10736511	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10736512	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10736513	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10790453	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10790455	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10790456	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10790457	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1111948	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1111950	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11218394	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1699100	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1699101	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17125802	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1893842	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1893844	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1893845	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944677	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944688	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944689	0.93[EUR][1000 genomes]
rs1944690	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944691	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1944692	0.93[EUR][1000 genomes]
rs1944693	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944694	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1944695	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2156665	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2226886	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4245043	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4450181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4561223	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs481201	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs481402	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490138	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4936642	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4936646	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936647	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936648	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936651	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs496460	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs496586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs499157	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500172	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs501840	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs507993	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs508851	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs519662	0.87[EUR][1000 genomes]
rs533875	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs535768	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs540824	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs541772	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs558783	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs560711	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs563265	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs573970	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs583663	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs618647	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs618931	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs619855	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs621271	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs632694	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs633072	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs634920	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs645409	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs648590	0.88[ASN][1000 genomes]
rs659435	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs662333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs662388	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs663151	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs663617	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs663731	0.97[ASN][1000 genomes]
rs664424	0.97[ASN][1000 genomes]
rs664539	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664885	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106615	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7106767	0.93[EUR][1000 genomes]
rs7107004	0.93[EUR][1000 genomes]
rs7115308	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7115487	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7120171	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7123866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131393	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7932213	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7937768	0.93[EUR][1000 genomes]
rs7941422	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7945301	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7945672	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7945853	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7949483	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs92061	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949077	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs949079	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898428	chr11:121568262-121671976	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832287	chr11:121575379-121722735	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv518668	chr11:121593385-121604656	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4936644	OR8B12	cis	cerebellum	SCAN
rs4936644	OR8A1	cis	cerebellum	SCAN
rs4936644	MPZL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121594800-121597800	Weak transcription	Fetal Stomach	stomach
2	chr11:121595000-121598600	Weak transcription	Colon Smooth Muscle	Colon
3	chr11:121596600-121598200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:121597200-121599000	Enhancers	HUVEC	blood vessel
5	chr11:121597400-121597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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