Variant report

Variant	rs56092022
Chromosome Location	chr1:114076708-114076709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11577235	0.91[EUR][1000 genomes]
rs11579386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17031640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17031645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17031648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2359410	0.91[EUR][1000 genomes]
rs6663791	0.91[EUR][1000 genomes]
rs6671518	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6696459	0.91[EUR][1000 genomes]
rs7514186	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7528311	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7553181	0.91[EUR][1000 genomes]
rs7555259	0.86[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114071000-114079800	Weak transcription	A549	lung
2	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
3	chr1:114073000-114076800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:114074600-114076800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:114075600-114077000	Enhancers	NHDF-Ad	bronchial
6	chr1:114076000-114079800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:114076200-114077200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:114076600-114077200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:114076600-114077200	Enhancers	NH-A	brain
10	chr1:114076600-114077400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr1:114076600-114077600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:114076600-114077800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:114076600-114077800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:114076600-114077800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:114076600-114077800	Enhancers	Fetal Muscle Leg	muscle
16	chr1:114076600-114077800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr1:114076600-114077800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:114076600-114077800	Enhancers	HSMM	muscle
19	chr1:114076600-114078000	Enhancers	Osteobl	bone
20	chr1:114076600-114078600	Enhancers	HSMMtube	muscle
21	chr1:114076600-114078800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:114076600-114079200	Enhancers	NHEK	skin
23	chr1:114076600-114079400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:114076600-114080000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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