Variant report

Variant	rs4859613
Chromosome Location	chr4:77008804-77008805
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76982557..76984766-chr4:77008579..77010146,2	K562	blood:
2	chr4:77006287..77011420-chr4:77011515..77015802,5	K562	blood:
3	chr4:76931634..76933510-chr4:77007552..77010198,2	K562	blood:
4	chr4:76988548..76989486-chr4:77008040..77008812,3	K562	blood:

Variant related genes	Relation type
ENSG00000156219	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10022137	0.92[ASN][1000 genomes]
rs10022519	0.92[ASN][1000 genomes]
rs10030683	1.00[ASN][1000 genomes]
rs11097232	0.92[ASN][1000 genomes]
rs12331521	0.92[ASN][1000 genomes]
rs13139234	1.00[ASN][1000 genomes]
rs4241591	0.92[ASN][1000 genomes]
rs4274876	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440243	0.92[ASN][1000 genomes]
rs4624679	0.84[ASN][1000 genomes]
rs4859619	0.84[ASN][1000 genomes]
rs6532181	1.00[ASN][1000 genomes]
rs6814012	1.00[CHB][hapmap]
rs6828078	0.93[AFR][1000 genomes]
rs6849653	0.94[AFR][1000 genomes]
rs7654988	0.92[ASN][1000 genomes]
rs7662679	0.91[AFR][1000 genomes]
rs7683914	0.91[AFR][1000 genomes]
rs7697711	0.92[ASN][1000 genomes]
rs9990550	0.92[ASN][1000 genomes]
rs9992976	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4859613	NAAA	cis	Esophagus Mucosa	GTEx
rs4859613	NAAA	cis	Muscle Skeletal	GTEx
rs4859613	NAAA	cis	Adipose Subcutaneous	GTEx
rs4859613	NAAA	cis	Nerve Tibial	GTEx
rs4859613	NAAA	cis	Esophagus Muscularis	GTEx
rs4859613	NAAA	cis	lung	GTEx
rs4859613	ART3	cis	Nerve Tibial	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77008000-77009000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:77008000-77009200	Enhancers	HepG2	liver
3	chr4:77008000-77009400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:77008000-77009400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:77008400-77009200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:77008400-77011200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:77008400-77011200	Weak transcription	HMEC	breast
8	chr4:77008400-77011400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:77008400-77014200	Weak transcription	Pancreas	Pancrea
10	chr4:77008600-77009000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:77008600-77009000	Enhancers	Brain Hippocampus Middle	brain
12	chr4:77008600-77009000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:77008600-77009000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:77008600-77009000	Enhancers	Hela-S3	cervix
15	chr4:77008600-77010000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:77008600-77010600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:77008600-77010600	Weak transcription	HUVEC	blood vessel
18	chr4:77008600-77011200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:77008600-77011200	Weak transcription	K562	blood
20	chr4:77008600-77011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:77008600-77011600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:77008600-77011600	Weak transcription	Osteobl	bone
23	chr4:77008600-77016800	Weak transcription	Psoas Muscle	Psoas
24	chr4:77008800-77009000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:77008800-77009200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:77008800-77009200	Enhancers	Brain Cingulate Gyrus	brain
27	chr4:77008800-77011200	Weak transcription	NHEK	skin
28	chr4:77008800-77011600	Weak transcription	Fetal Heart	heart

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