Variant report

Variant	rs4859573
Chromosome Location	chr4:76857395-76857396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:76857214-76857425	K562	blood:	n/a	n/a
2	CEBPB	chr4:76857120-76857440	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76857067..76859381-chr4:76860422..76862398,2	K562	blood:

Variant related genes	Relation type
NAAA	TF binding region
ENSG00000138744	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10009947	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10021434	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10031733	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10518143	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12374321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12374370	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13105416	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13112512	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13118503	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13129896	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17001247	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1857821	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242470	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271528	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276886	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28375800	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28422144	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28451731	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532601	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535831	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28595360	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28647886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869462	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34630680	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34740469	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3733238	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796484	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4241577	0.83[AMR][1000 genomes]
rs4859567	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4859568	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4859569	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4859570	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859571	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859572	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859577	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859578	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859580	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55876513	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66498356	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6847815	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs884004	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4859573	NAAA	cis	Esophagus Muscularis	GTEx
rs4859573	NAAA	cis	Muscle Skeletal	GTEx
rs4859573	NAAA	cis	Esophagus Mucosa	GTEx
rs4859573	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs4859573	NAAA	cis	Whole Blood	GTEx
rs4859573	NAAA	cis	Artery Aorta	GTEx
rs4859573	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs4859573	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs4859573	NAAA	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76832600-76859000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr4:76833800-76860800	Weak transcription	Fetal Heart	heart
3	chr4:76835000-76859400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:76835000-76859600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:76835200-76859800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:76837000-76860200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:76837200-76860800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:76837200-76860800	Weak transcription	HSMM	muscle
9	chr4:76837600-76858400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:76837600-76859200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:76837600-76860800	Weak transcription	Fetal Kidney	kidney
12	chr4:76837800-76860800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:76837800-76860800	Weak transcription	NH-A	brain
14	chr4:76838000-76857600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:76838600-76860800	Weak transcription	NHLF	lung
16	chr4:76839000-76860400	Weak transcription	HUVEC	blood vessel
17	chr4:76839400-76860800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:76839600-76859200	Weak transcription	Brain Substantia Nigra	brain
19	chr4:76839800-76860800	Weak transcription	Psoas Muscle	Psoas
20	chr4:76839800-76860800	Weak transcription	HMEC	breast
21	chr4:76841800-76857400	Weak transcription	Osteobl	bone
22	chr4:76841800-76860800	Weak transcription	Brain Germinal Matrix	brain
23	chr4:76842000-76857400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:76842000-76860400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:76842400-76860800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:76842600-76860800	Weak transcription	Pancreas	Pancrea
27	chr4:76843000-76860600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:76843000-76860800	Weak transcription	Thymus	Thymus
29	chr4:76843000-76860800	Weak transcription	NHEK	skin
30	chr4:76843400-76859800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:76843400-76860000	Weak transcription	A549	lung
32	chr4:76843400-76861000	Weak transcription	Small Intestine	intestine
33	chr4:76845400-76860800	Weak transcription	Right Ventricle	heart
34	chr4:76845600-76860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:76846000-76860800	Weak transcription	HSMMtube	muscle
36	chr4:76849200-76858000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:76849200-76859800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:76850800-76860800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:76851800-76859000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:76852200-76860200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:76852200-76860400	Weak transcription	Primary B cells from cord blood	blood
42	chr4:76852200-76860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:76852200-76860600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:76852200-76860600	Weak transcription	Brain Anterior Caudate	brain
45	chr4:76852200-76860600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:76852200-76860800	Weak transcription	Fetal Stomach	stomach
47	chr4:76852200-76860800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:76852400-76857600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:76852400-76859600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:76852400-76860200	Weak transcription	Spleen	Spleen

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