Variant report

Variant	rs7930548
Chromosome Location	chr11:5333124-5333125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5330393..5334206-chr11:5464650..5469323,6	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10082660	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10742617	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10742622	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs10768786	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10768792	0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs10768793	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs10837783	0.98[ASN][1000 genomes]
rs10837784	0.98[ASN][1000 genomes]
rs10837791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10837794	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11036723	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11036727	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11036729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11036730	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11036739	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11036762	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11036763	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[ASN][1000 genomes]
rs11036764	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11036783	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs12293101	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12361239	0.96[ASN][1000 genomes]
rs12365420	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3886220	0.84[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs3902049	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap];0.96[ASN][1000 genomes]
rs4433594	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs4556577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4910550	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs4910745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910746	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910750	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs61894568	0.91[ASN][1000 genomes]
rs6578604	1.00[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6578606	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs7106071	0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs7106718	0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs7481985	0.82[EUR][1000 genomes]
rs7482918	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7483109	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7483899	0.98[ASN][1000 genomes]
rs7926089	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7926855	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7933257	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs7934005	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs7937237	0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs7941323	0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7945616	0.96[ASN][1000 genomes]
rs7945886	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7948348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951549	0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs7952293	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042613	chr11:5173410-5336839	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1052750	chr11:5187571-5338802	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1048355	chr11:5192334-5336839	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1037760	chr11:5228195-5338802	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1054068	chr11:5228264-5336839	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7930548	OR52E4	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5330400-5345000	Weak transcription	K562	blood

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