Variant report

Variant	rs12866053
Chromosome Location	chr13:30222822-30222823
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11838567	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11840911	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11841138	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11841148	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11841157	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11841439	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11843086	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11843900	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12860598	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12864518	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12866393	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12871787	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12873225	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1576607	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34203921	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34715453	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34825298	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34953541	1.00[AFR][1000 genomes]
rs35243951	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35253788	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35409650	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35502883	0.85[EUR][1000 genomes]
rs36018849	0.88[EUR][1000 genomes]
rs71434734	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7987685	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7992475	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7993901	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528336	chr13:30194288-30226498	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv980	chr13:30200197-30236915	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3422004	chr13:30214852-30223050	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv3519856	chr13:30215720-30223264	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv3522108	chr13:30215757-30223218	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3519857	chr13:30215829-30223185	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3522119	chr13:30215829-30223185	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv498808	chr13:30215837-30228124	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv3449679	chr13:30216652-30223050	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30220800-30226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:30221800-30223000	Active TSS	Primary T cells fromperipheralblood	blood
3	chr13:30222400-30223200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr13:30222400-30229400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:30222600-30223000	Enhancers	Primary T cells from cord blood	blood
6	chr13:30222800-30223200	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:30222800-30232800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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