Variant report

Variant	rs12649185
Chromosome Location	chr4:76956179-76956180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76911559..76914179-chr4:76954597..76956782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198301	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10002977	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10007919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021434	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10029157	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10031733	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10031983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518143	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12651402	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13121161	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13129896	0.81[AMR][1000 genomes]
rs17001247	0.81[AMR][1000 genomes]
rs1857821	0.81[EUR][1000 genomes]
rs2271528	0.81[EUR][1000 genomes]
rs2276886	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28655366	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2869462	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28818603	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28897072	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34740469	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3733238	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4241577	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4429750	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508917	0.84[EUR][1000 genomes]
rs4859577	0.81[EUR][1000 genomes]
rs4859578	0.81[EUR][1000 genomes]
rs4859580	0.81[EUR][1000 genomes]
rs4859609	0.81[EUR][1000 genomes]
rs6841333	0.83[EUR][1000 genomes]
rs6847815	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7688312	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs884004	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9994667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv1815228	chr4:76955027-76959624	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3342501	chr4:76955662-76957510	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12649185	NAAA	cis	Skin Sun Exposed Lower leg	GTEx
rs12649185	NAAA	cis	Esophagus Muscularis	GTEx
rs12649185	CXCL10	Cis_1M	lymphoblastoid	RTeQTL
rs12649185	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs12649185	NAAA	cis	Muscle Skeletal	GTEx
rs12649185	NAAA	cis	Artery Aorta	GTEx
rs12649185	NAAA	cis	Esophagus Mucosa	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76950200-76957000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:76950800-76956200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:76955600-76956800	Enhancers	GM12878-XiMat	blood
4	chr4:76955800-76958000	Weak transcription	Right Atrium	heart
5	chr4:76956000-76957400	Enhancers	Primary monocytes fromperipheralblood	blood

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