Variant report

Variant	rs73068111
Chromosome Location	chr1:192874208-192874209
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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12093765	0.95[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[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068113	1.00[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	1.00[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192871800-192875000	Weak transcription	Pancreas	Pancrea
2	chr1:192872200-192874400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:192873400-192874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:192873400-192874400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:192873400-192874400	Enhancers	HMEC	breast
6	chr1:192873400-192874800	Enhancers	Hela-S3	cervix
7	chr1:192873400-192878400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192873600-192874400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:192873600-192874400	Enhancers	Stomach Mucosa	stomach
10	chr1:192873600-192874600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:192873600-192874800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:192873600-192876800	Enhancers	NHEK	skin
13	chr1:192873800-192874400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:192873800-192876800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:192874000-192874400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:192874000-192874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:192874000-192874400	Enhancers	NH-A	brain
18	chr1:192874000-192874400	Weak transcription	NHLF	lung
19	chr1:192874000-192874600	Enhancers	Colon Smooth Muscle	Colon
20	chr1:192874000-192874800	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:192874000-192874800	Enhancers	Osteobl	bone
22	chr1:192874000-192875000	Enhancers	HSMM	muscle
23	chr1:192874000-192875000	Enhancers	HSMMtube	muscle
24	chr1:192874200-192874400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:192874200-192874400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:192874200-192874400	Flanking Active TSS	A549	lung
27	chr1:192874200-192874600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:192874200-192876600	Weak transcription	Primary monocytes fromperipheralblood	blood

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