Variant report

Variant	rs622528
Chromosome Location	chr19:39480095-39480096
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	chr19:39478331..39480125-chr19:39483725..39485536,2	MCF-7	breast:
2	chr19:39480024..39481800-chr19:39521325..39523355,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161243	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10403486	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10408493	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10415667	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12461981	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12608659	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1654334	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1654335	0.83[AFR][1000 genomes]
rs1654336	0.83[AFR][1000 genomes]
rs1654337	0.80[AFR][1000 genomes]
rs1672656	0.85[AFR][1000 genomes]
rs1672657	0.85[AFR][1000 genomes]
rs1672658	0.83[AFR][1000 genomes]
rs17795157	0.85[AFR][1000 genomes]
rs2318464	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318465	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318956	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28378068	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34638406	0.95[ASN][1000 genomes]
rs3848622	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs473604	0.80[AFR][1000 genomes]
rs4801996	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482342	0.85[AFR][1000 genomes]
rs483359	0.85[AFR][1000 genomes]
rs490761	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs500660	0.80[AFR][1000 genomes]
rs55722117	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55829324	0.80[AFR][1000 genomes]
rs56111444	0.80[AFR][1000 genomes]
rs564474	0.80[AFR][1000 genomes]
rs57214361	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57810919	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs581978	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs586159	0.80[AFR][1000 genomes]
rs58762231	0.90[ASN][1000 genomes]
rs59268123	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs606372	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61265620	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs637972	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs638015	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs649150	0.86[ASN][1000 genomes]
rs650027	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs678885	0.80[AFR][1000 genomes]
rs681145	0.80[AFR][1000 genomes]
rs7246775	0.82[AMR][1000 genomes]
rs7249004	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250349	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251721	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7251820	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7258123	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7258386	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72623864	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7508413	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105165	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8105298	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs622528	FBXO27	cis	Skin Sun Exposed Lower leg	GTEx
rs622528	CTB-189B5.3	cis	Esophagus Mucosa	GTEx
rs622528	CTB-189B5.3	cis	Skin Sun Exposed Lower leg	GTEx
rs622528	FBXO27	cis	Esophagus Mucosa	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39478800-39480800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr19:39479000-39483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:39479400-39480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr19:39479400-39480800	Enhancers	HepG2	liver
5	chr19:39479400-39481000	Enhancers	Fetal Heart	heart
6	chr19:39479600-39480200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr19:39479600-39480200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:39479600-39480200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr19:39479600-39480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr19:39479600-39480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:39479600-39480200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
12	chr19:39479600-39480200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:39479600-39480200	Enhancers	Adipose Nuclei	Adipose
14	chr19:39479600-39480200	Enhancers	Fetal Lung	lung
15	chr19:39479600-39480200	Enhancers	Fetal Stomach	stomach
16	chr19:39479600-39480200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr19:39479600-39480200	Enhancers	Hela-S3	cervix
18	chr19:39479600-39480200	Enhancers	HMEC	breast
19	chr19:39479600-39480200	Enhancers	NHDF-Ad	bronchial
20	chr19:39479600-39481000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:39479600-39481000	Enhancers	Fetal Muscle Leg	muscle
22	chr19:39479600-39482800	Enhancers	Placenta	Placenta
23	chr19:39479800-39480200	Enhancers	Fetal Intestine Large	intestine
24	chr19:39479800-39480200	Enhancers	HSMM	muscle
25	chr19:39479800-39481800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:39480000-39480200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:39480000-39480200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:39480000-39480200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:39480000-39480200	Enhancers	A549	lung
30	chr19:39480000-39480200	Enhancers	HSMMtube	muscle
31	chr19:39480000-39481600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:39480000-39481600	Enhancers	Fetal Muscle Trunk	muscle
33	chr19:39480000-39481600	Weak transcription	Osteobl	bone
34	chr19:39480000-39483800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:39480000-39503400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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