Variant report

Variant	rs12093765
Chromosome Location	chr1:192862203-192862204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192809794..192812328-chr1:192861715..192864449,2	K562	blood:
2	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10489515	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10489517	1.00[EUR][1000 genomes]
rs10921269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12091442	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096309	1.00[EUR][1000 genomes]
rs1342808	1.00[EUR][1000 genomes]
rs1418719	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834625	1.00[EUR][1000 genomes]
rs16834852	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834867	1.00[EUR][1000 genomes]
rs16834872	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16834876	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41512544	1.00[EUR][1000 genomes]
rs55747130	1.00[EUR][1000 genomes]
rs56031935	1.00[EUR][1000 genomes]
rs57149196	1.00[EUR][1000 genomes]
rs57189481	1.00[EUR][1000 genomes]
rs57630083	1.00[EUR][1000 genomes]
rs57826402	1.00[EUR][1000 genomes]
rs57890252	1.00[EUR][1000 genomes]
rs57963116	1.00[EUR][1000 genomes]
rs60892638	1.00[EUR][1000 genomes]
rs6680350	1.00[EUR][1000 genomes]
rs6683145	1.00[EUR][1000 genomes]
rs6702235	1.00[EUR][1000 genomes]
rs6702236	1.00[EUR][1000 genomes]
rs73052222	1.00[EUR][1000 genomes]
rs73052226	1.00[EUR][1000 genomes]
rs73060190	1.00[EUR][1000 genomes]
rs73062239	1.00[EUR][1000 genomes]
rs73062264	1.00[EUR][1000 genomes]
rs73062267	1.00[EUR][1000 genomes]
rs73062271	1.00[EUR][1000 genomes]
rs73062273	1.00[EUR][1000 genomes]
rs73062285	1.00[EUR][1000 genomes]
rs73062286	1.00[EUR][1000 genomes]
rs73062290	1.00[EUR][1000 genomes]
rs73064112	1.00[EUR][1000 genomes]
rs73064182	1.00[EUR][1000 genomes]
rs73064200	1.00[EUR][1000 genomes]
rs73066132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068113	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068116	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130451	1.00[EUR][1000 genomes]
rs74130466	1.00[EUR][1000 genomes]
rs7538953	1.00[EUR][1000 genomes]
rs7552270	1.00[EUR][1000 genomes]
rs7555263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv3390055	chr1:192859229-192863127	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3340601	chr1:192859679-192862977	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192860800-192863200	Enhancers	HMEC	breast
2	chr1:192861800-192862600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:192861800-192862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:192861800-192862800	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:192861800-192862800	Enhancers	NHEK	skin
6	chr1:192861800-192863200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:192862000-192862400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:192862000-192863000	Enhancers	Colon Smooth Muscle	Colon

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