Variant report

Variant	rs1519224
Chromosome Location	chr4:124908231-124908232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1072812	0.80[AMR][1000 genomes]
rs11732972	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11735296	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11941184	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11944441	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13106725	0.80[AMR][1000 genomes]
rs13117592	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13125072	0.87[AMR][1000 genomes]
rs13128086	0.80[AMR][1000 genomes]
rs13131552	0.80[AMR][1000 genomes]
rs13145600	0.80[AMR][1000 genomes]
rs13145647	0.80[AMR][1000 genomes]
rs13145840	0.80[AMR][1000 genomes]
rs13151047	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13152106	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1401528	0.80[AMR][1000 genomes]
rs1401529	0.80[AMR][1000 genomes]
rs1401530	0.80[AMR][1000 genomes]
rs1401531	0.80[AMR][1000 genomes]
rs1519225	0.87[AMR][1000 genomes]
rs1519235	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1589203	0.80[AMR][1000 genomes]
rs1829425	0.80[AMR][1000 genomes]
rs1850753	0.80[AMR][1000 genomes]
rs1850754	0.80[AMR][1000 genomes]
rs1850755	0.80[AMR][1000 genomes]
rs1914902	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2390617	0.80[AMR][1000 genomes]
rs2390618	0.80[AMR][1000 genomes]
rs28773619	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2893068	0.80[AMR][1000 genomes]
rs34042194	0.80[AMR][1000 genomes]
rs34160919	0.80[AMR][1000 genomes]
rs34295245	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34758288	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34947044	0.80[AMR][1000 genomes]
rs35096521	0.80[AMR][1000 genomes]
rs35402687	0.80[AMR][1000 genomes]
rs35795102	0.80[AMR][1000 genomes]
rs4833294	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4833963	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833967	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6823887	0.80[AMR][1000 genomes]
rs6824226	0.80[AMR][1000 genomes]
rs6824286	0.80[AMR][1000 genomes]
rs6837861	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6842970	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6844147	0.80[AMR][1000 genomes]
rs73846824	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73846832	0.80[ASN][1000 genomes]
rs985573	0.87[AMR][1000 genomes]
rs9884540	0.87[AMR][1000 genomes]
rs9995358	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv879876	chr4:124847477-124908231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879877	chr4:124847477-124935698	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv879878	chr4:124850901-124935698	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv879879	chr4:124893772-124971109	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1519224	C4orf29	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124904400-124908600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124906200-124910400	Enhancers	HUVEC	blood vessel
3	chr4:124906600-124908800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:124906600-124908800	Enhancers	NHLF	lung
5	chr4:124906800-124908400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:124906800-124908400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:124906800-124908400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:124906800-124908800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:124906800-124908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:124906800-124908800	Enhancers	Adipose Nuclei	Adipose
11	chr4:124906800-124908800	Enhancers	Osteobl	bone
12	chr4:124906800-124909200	Enhancers	HSMM	muscle
13	chr4:124907000-124908800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:124907200-124908800	Enhancers	NHEK	skin
15	chr4:124907200-124909200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:124907400-124908400	Enhancers	Fetal Lung	lung
17	chr4:124907600-124909000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:124908000-124908400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:124908000-124908800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:124908000-124908800	Enhancers	NH-A	brain
21	chr4:124908000-124909000	Enhancers	HMEC	breast
22	chr4:124908000-124909000	Enhancers	NHDF-Ad	bronchial
23	chr4:124908200-124908600	Flanking Active TSS	HSMMtube	muscle
24	chr4:124908200-124908800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:124908200-124908800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:124908200-124909000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:124908200-124909000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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