Variant report

Variant	rs4508917
Chromosome Location	chr4:76946097-76946098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10007919	0.84[EUR][1000 genomes]
rs10029157	0.84[EUR][1000 genomes]
rs10031983	0.84[EUR][1000 genomes]
rs12504339	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs12649185	0.84[EUR][1000 genomes]
rs13130917	0.80[CEU][hapmap]
rs35882473	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4429750	0.82[EUR][1000 genomes]
rs6834223	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs884304	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9994667	0.84[EUR][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
rs4508917	NAAA	cis	Esophagus Mucosa	GTEx
rs4508917	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs4508917	NAAA	cis	Whole Blood	GTEx
rs4508917	NAAA	cis	Artery Aorta	GTEx
rs4508917	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs4508917	NAAA	cis	Adipose Subcutaneous	GTEx
rs4508917	NAAA	cis	Muscle Skeletal	GTEx
rs4508917	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs4508917	NAAA	cis	Esophagus Muscularis	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76944400-76946200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:76944800-76949200	Weak transcription	Fetal Lung	lung
3	chr4:76944800-76949600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:76945000-76949200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:76945200-76949600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:76945400-76946400	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:76945400-76949200	Weak transcription	Adipose Nuclei	Adipose
8	chr4:76945400-76949200	Weak transcription	Liver	Liver
9	chr4:76945400-76949600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:76945600-76946200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:76945600-76949200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:76945600-76949600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:76945800-76949200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:76945800-76949200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr4:76945800-76949400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr4:76945800-76949600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:76946000-76946400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:76946000-76949600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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