Variant report

Variant	rs17047273
Chromosome Location	chr2:56092936-56092937
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56089463..56091242-chr2:56092326..56094493,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17047275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17047297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2903836	1.00[AMR][1000 genomes]
rs6715632	0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6715773	0.84[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6747198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752961	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72922491	1.00[EUR][1000 genomes]
rs72922494	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72924519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56089200-56095000	Weak transcription	Aorta	Aorta
2	chr2:56089200-56097000	Weak transcription	Lung	lung
3	chr2:56089200-56112200	Weak transcription	Pancreas	Pancrea
4	chr2:56089400-56093800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:56089400-56097000	Weak transcription	Right Atrium	heart
6	chr2:56089600-56097000	Weak transcription	HSMMtube	muscle
7	chr2:56089800-56098000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:56090000-56107600	Weak transcription	Fetal Stomach	stomach
9	chr2:56090200-56107400	Weak transcription	Fetal Lung	lung
10	chr2:56090400-56094800	Weak transcription	Adipose Nuclei	Adipose
11	chr2:56090800-56094200	Weak transcription	NHEK	skin
12	chr2:56090800-56094800	Weak transcription	Placenta	Placenta
13	chr2:56090800-56095000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:56091000-56093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:56091200-56102600	Weak transcription	Hela-S3	cervix
16	chr2:56091800-56093000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:56091800-56093000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:56092000-56093400	Enhancers	A549	lung
19	chr2:56092000-56093600	Enhancers	NHDF-Ad	bronchial
20	chr2:56092000-56099200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:56092200-56094000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:56092400-56093000	Enhancers	NH-A	brain
23	chr2:56092400-56093000	Enhancers	NHLF	lung
24	chr2:56092400-56093600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:56092400-56094800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:56092400-56100000	Genic enhancers	Osteobl	bone
27	chr2:56092400-56111600	Genic enhancers	HUVEC	blood vessel
28	chr2:56092600-56093000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:56092600-56093000	Enhancers	HMEC	breast
30	chr2:56092600-56102600	Strong transcription	HSMM	muscle
31	chr2:56092800-56093000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:56092800-56093000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:56092800-56094200	Weak transcription	Ovary	ovary
34	chr2:56092800-56107800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:56092800-56112400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:56092800-56114400	Weak transcription	Brain Cingulate Gyrus	brain

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