Variant report

Variant	rs4386627
Chromosome Location	chr4:76966321-76966322
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	PAX5	chr4:76966276-76966501	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:76966287-76966432	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:76966224-76966444	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76965007..76966761-chr4:77015642..77017925,2	K562	blood:

Variant related genes	Relation type
CXCL11	TF binding region
ENSG00000265931	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 13 )

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

rs_ID	r²[population]
rs10002099	0.81[EUR][1000 genomes]
rs10025181	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10033061	0.83[EUR][1000 genomes]
rs10034055	0.81[EUR][1000 genomes]
rs12647111	0.81[EUR][1000 genomes]
rs28505472	0.80[EUR][1000 genomes]
rs28681066	0.80[EUR][1000 genomes]
rs28757394	0.80[EUR][1000 genomes]
rs28848839	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28868672	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28896243	0.81[EUR][1000 genomes]
rs4373188	0.82[EUR][1000 genomes]
rs4435768	0.81[EUR][1000 genomes]
rs4524415	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4529084	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4532263	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4532264	0.81[AMR][1000 genomes]
rs4541535	0.81[EUR][1000 genomes]
rs4643846	0.82[AMR][1000 genomes]
rs4859599	0.80[EUR][1000 genomes]
rs4859601	0.83[EUR][1000 genomes]
rs4859602	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4859603	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4859604	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859605	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859606	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6532126	0.80[AMR][1000 genomes]
rs6532130	0.80[EUR][1000 genomes]
rs6532142	0.81[EUR][1000 genomes]
rs6532143	0.81[EUR][1000 genomes]
rs6811252	0.81[EUR][1000 genomes]
rs6811301	0.81[EUR][1000 genomes]
rs6811469	0.83[EUR][1000 genomes]
rs6816898	0.83[EUR][1000 genomes]
rs6824381	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6824963	0.83[AMR][1000 genomes]
rs6827767	0.81[EUR][1000 genomes]
rs6829896	0.81[EUR][1000 genomes]
rs6849464	0.82[AMR][1000 genomes]
rs7376943	0.81[EUR][1000 genomes]
rs7377856	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9990733	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
4	esv19222	chr4:76948569-76977780	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1802071	chr4:76948817-76972594	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv594691	chr4:76961802-76972594	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1810835	chr4:76961802-76974351	Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv594692	chr4:76964188-76974351	Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv513139	chr4:76964249-76972315	Weak transcription Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4386627	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs4386627	NAAA	cis	Artery Aorta	GTEx
rs4386627	NAAA	cis	Esophagus Mucosa	GTEx
rs4386627	NAAA	cis	Whole Blood	GTEx
rs4386627	NAAA	cis	Muscle Skeletal	GTEx
rs4386627	NAAA	cis	Artery Tibial	GTEx
rs4386627	NAAA	cis	Esophagus Muscularis	GTEx
rs4386627	NAAA	cis	Adipose Subcutaneous	GTEx
rs4386627	ART3	cis	Nerve Tibial	GTEx
rs4386627	NAAA	cis	Nerve Tibial	GTEx
rs4386627	NAAA	cis	lung	GTEx
rs4386627	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs4386627	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76958200-76972600	Weak transcription	Right Atrium	heart
2	chr4:76965000-76977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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