Variant report

Variant	rs73068116
Chromosome Location	chr1:192878152-192878153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10489515	1.00[EUR][1000 genomes]
rs10489517	1.00[EUR][1000 genomes]
rs10921269	1.00[EUR][1000 genomes]
rs12091442	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093765	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096309	1.00[EUR][1000 genomes]
rs1342808	1.00[EUR][1000 genomes]
rs1418719	1.00[EUR][1000 genomes]
rs16834852	1.00[EUR][1000 genomes]
rs16834867	1.00[EUR][1000 genomes]
rs16834872	1.00[EUR][1000 genomes]
rs16834876	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068111	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068113	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192873400-192878400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192874600-192879600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:192875400-192889200	Weak transcription	Pancreas	Pancrea
4	chr1:192875600-192878200	Enhancers	HMEC	breast
5	chr1:192875600-192878400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:192875600-192878400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:192876600-192878200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:192876600-192878800	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:192876800-192878400	Enhancers	Colon Smooth Muscle	Colon
10	chr1:192877200-192878200	Enhancers	NHEK	skin
11	chr1:192877600-192878400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:192877600-192878400	Enhancers	HSMM	muscle
13	chr1:192877600-192881400	Weak transcription	HSMMtube	muscle
14	chr1:192877800-192878200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:192877800-192879600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:192877800-192884000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:192877800-192884000	Weak transcription	Small Intestine	intestine
18	chr1:192878000-192881200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:192878000-192883000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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