Variant report

Variant	rs4244571
Chromosome Location	chr15:39761669-39761670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11070204	0.88[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1158918	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11631986	0.85[YRI][hapmap]
rs11633970	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11857561	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12438465	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12899217	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812583	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1947782	0.85[ASN][1000 genomes]
rs1993892	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1993893	0.96[ASN][1000 genomes]
rs2086166	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34329697	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4486853	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4533261	0.81[YRI][hapmap]
rs4924361	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924363	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59431794	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60697424	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492888	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7171244	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178351	1.00[CEU][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7180041	1.00[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7350779	1.00[CEU][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.82[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs74008200	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74010438	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030260	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8032900	0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8033214	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8040790	0.85[YRI][hapmap]
rs9888722	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9920539	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4244571	AQR	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39753600-39765200	Weak transcription	Pancreas	Pancrea
2	chr15:39754600-39764600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:39754800-39763400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:39758000-39762200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:39758200-39765200	Weak transcription	Right Atrium	heart
6	chr15:39758800-39764000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:39758800-39765200	Weak transcription	HSMM	muscle
8	chr15:39759400-39761800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:39759600-39763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:39759800-39761800	Enhancers	Primary hematopoietic stem cells	blood
11	chr15:39759800-39761800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:39759800-39763000	Weak transcription	Fetal Lung	lung
13	chr15:39759800-39763400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:39759800-39764000	Weak transcription	NHLF	lung
15	chr15:39759800-39765200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:39759800-39766800	Weak transcription	Lung	lung
17	chr15:39759800-39770800	Weak transcription	Stomach Mucosa	stomach
18	chr15:39760000-39764600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:39760200-39762000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr15:39761000-39761800	Enhancers	Colon Smooth Muscle	Colon
21	chr15:39761000-39765200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:39761200-39761800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:39761200-39762800	Weak transcription	Fetal Stomach	stomach
24	chr15:39761200-39763200	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:39761200-39763400	Weak transcription	NHDF-Ad	bronchial
26	chr15:39761200-39764600	Weak transcription	Adipose Nuclei	Adipose
27	chr15:39761200-39764600	Weak transcription	Osteobl	bone
28	chr15:39761200-39765000	Weak transcription	K562	blood
29	chr15:39761200-39765200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:39761400-39764400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:39761400-39765200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:39761400-39766200	Weak transcription	HUVEC	blood vessel
33	chr15:39761600-39762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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