Variant report

Variant	rs1439582
Chromosome Location	chr5:124612211-124612212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10045892	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11241796	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11241797	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11959358	0.89[EUR][1000 genomes]
rs1347923	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1347925	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1348584	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371371	0.80[AMR][1000 genomes]
rs1439583	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439586	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439611	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1444659	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2118999	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4351146	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836166	0.81[ASN][1000 genomes]
rs5011755	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595604	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6595606	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6879987	0.88[EUR][1000 genomes]
rs713163	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7731555	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7737255	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs996377	0.89[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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1439582	CTXN3	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124599800-124613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:124604200-124612400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124608400-124612800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:124608800-124612600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:124609000-124614800	Enhancers	HUVEC	blood vessel
6	chr5:124609200-124612800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:124609200-124613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:124609600-124613400	Weak transcription	Stomach Mucosa	stomach
9	chr5:124609600-124614200	Enhancers	Hela-S3	cervix
10	chr5:124610000-124612600	Enhancers	HSMMtube	muscle
11	chr5:124610000-124612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:124610000-124613000	Enhancers	Fetal Heart	heart
13	chr5:124610200-124613200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:124611200-124612600	Weak transcription	NH-A	brain
15	chr5:124611200-124613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:124611400-124612600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:124611400-124612800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:124611400-124613000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:124611400-124613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:124611400-124613200	Weak transcription	Osteobl	bone
21	chr5:124611600-124612800	Weak transcription	HSMM	muscle
22	chr5:124611600-124617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:124611600-124617200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:124611800-124617200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:124612000-124612600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:124612200-124612600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:124612200-124614200	Enhancers	A549	lung

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