Variant report

Variant	rs57459864
Chromosome Location	chr3:46891310-46891311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1042973	0.84[ASN][1000 genomes]
rs12106917	0.84[ASN][1000 genomes]
rs12107311	0.84[ASN][1000 genomes]
rs12107667	0.84[ASN][1000 genomes]
rs1531136	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1869868	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2385860	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28440083	0.84[ASN][1000 genomes]
rs28493273	0.84[ASN][1000 genomes]
rs28869819	0.84[ASN][1000 genomes]
rs3762795	0.86[EUR][1000 genomes]
rs3792558	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4683304	0.85[ASN][1000 genomes]
rs67839338	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6791251	0.84[ASN][1000 genomes]
rs6800199	0.84[ASN][1000 genomes]
rs7633581	0.90[ASN][1000 genomes]
rs877670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs936175	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv2757869	chr3:46680452-46972489	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2759147	chr3:46680452-46972489	Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv590204	chr3:46852679-46901654	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv590205	chr3:46852679-46929546	Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1003979	chr3:46853374-46943854	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv590206	chr3:46873957-46935527	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv876752	chr3:46879831-46967040	Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv876753	chr3:46884552-46957298	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv876754	chr3:46884552-46967040	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs57459864	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs57459864	PRSS46	cis	Heart Left Ventricle	GTEx
rs57459864	PRSS45	cis	Thyroid	GTEx
rs57459864	PRSS45	cis	Esophagus Muscularis	GTEx
rs57459864	PRSS46	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46888000-46891600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:46888000-46892200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr3:46888000-46908800	Weak transcription	Esophagus	oesophagus
4	chr3:46888200-46892200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:46888400-46891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:46888400-46892000	Enhancers	Fetal Intestine Large	intestine
7	chr3:46888400-46892200	Enhancers	Right Ventricle	heart
8	chr3:46888600-46891400	Enhancers	Adipose Nuclei	Adipose
9	chr3:46888600-46891800	Enhancers	Fetal Intestine Small	intestine
10	chr3:46888800-46891600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:46888800-46892200	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:46889000-46891800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:46889000-46892000	Enhancers	Fetal Muscle Leg	muscle
14	chr3:46889200-46897200	Enhancers	Fetal Heart	heart
15	chr3:46889800-46891600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:46889800-46891600	Enhancers	Fetal Kidney	kidney
17	chr3:46889800-46891800	Enhancers	Fetal Lung	lung
18	chr3:46890000-46893000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:46890200-46891800	Enhancers	Fetal Stomach	stomach
20	chr3:46890200-46891800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:46890200-46894600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:46890200-46895400	Weak transcription	Ovary	ovary
23	chr3:46890400-46892800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr3:46890800-46891600	Enhancers	HepG2	liver
25	chr3:46890800-46897800	Weak transcription	Left Ventricle	heart
26	chr3:46891000-46895600	Weak transcription	Spleen	Spleen
27	chr3:46891200-46893000	Weak transcription	Placenta	Placenta

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