Variant report

Variant	rs4924363
Chromosome Location	chr15:39790908-39790909
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	chr15:39784312..39786766-chr15:39790044..39793415,3	K562	blood:
2	chr15:39788869..39791943-chr15:39792558..39796121,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11070204	0.80[CEU][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs1158918	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11633970	0.84[ASN][1000 genomes]
rs11857561	0.87[ASN][1000 genomes]
rs12438465	0.80[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12593294	0.80[CEU][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12899217	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812583	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1947782	0.86[ASN][1000 genomes]
rs1993892	0.86[ASN][1000 genomes]
rs1993893	0.82[ASN][1000 genomes]
rs2086166	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2127029	1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2411293	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34329697	0.84[ASN][1000 genomes]
rs4244571	0.80[CEU][hapmap];0.85[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4486853	0.83[EUR][1000 genomes]
rs4924361	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59431794	0.84[ASN][1000 genomes]
rs60697424	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6492888	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7171244	0.84[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7178351	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs7180041	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs7350779	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.87[ASN][1000 genomes]
rs74008200	0.86[ASN][1000 genomes]
rs74010438	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030260	0.86[ASN][1000 genomes]
rs8032900	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8033214	0.87[ASN][1000 genomes]
rs9888722	0.80[CEU][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9920539	0.84[EUR][1000 genomes];0.86[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
rs4924363	AQR	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39781400-39792200	Weak transcription	Right Atrium	heart
2	chr15:39787800-39792200	Enhancers	Ovary	ovary
3	chr15:39788000-39791400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:39788000-39791600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:39788000-39791800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:39788000-39791800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:39788000-39792000	Enhancers	Stomach Smooth Muscle	stomach
8	chr15:39788000-39794000	Enhancers	NHDF-Ad	bronchial
9	chr15:39788000-39795400	Enhancers	Fetal Stomach	stomach
10	chr15:39788200-39791400	Enhancers	Adipose Nuclei	Adipose
11	chr15:39788200-39791600	Enhancers	Fetal Heart	heart
12	chr15:39788200-39791600	Enhancers	Osteobl	bone
13	chr15:39788200-39792400	Enhancers	Rectal Smooth Muscle	rectum
14	chr15:39788200-39792800	Enhancers	Fetal Muscle Leg	muscle
15	chr15:39788200-39795400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:39788400-39791600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:39788400-39792200	Enhancers	Colon Smooth Muscle	Colon
18	chr15:39788800-39791000	Enhancers	Fetal Thymus	thymus
19	chr15:39789000-39791200	Weak transcription	Right Ventricle	heart
20	chr15:39789000-39794400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:39789000-39800800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:39789000-39803200	Weak transcription	Left Ventricle	heart
23	chr15:39789200-39791200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:39789600-39791000	Enhancers	HMEC	breast
25	chr15:39789600-39791200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:39789600-39791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:39789800-39791000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:39789800-39791600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:39789800-39793400	Weak transcription	Esophagus	oesophagus
30	chr15:39790000-39791400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:39790000-39791600	Enhancers	Fetal Lung	lung
32	chr15:39790000-39792200	Enhancers	NHLF	lung
33	chr15:39790200-39794400	Weak transcription	K562	blood
34	chr15:39790400-39793200	Weak transcription	NHEK	skin
35	chr15:39790600-39791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr15:39790600-39791800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr15:39790600-39793200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:39790600-39793600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:39790600-39793600	Weak transcription	HSMM	muscle
40	chr15:39790800-39791000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:39790800-39791000	Enhancers	Fetal Muscle Trunk	muscle
42	chr15:39790800-39791200	Weak transcription	Fetal Kidney	kidney
43	chr15:39790800-39791200	Enhancers	Placenta	Placenta
44	chr15:39790800-39791400	Enhancers	Fetal Intestine Large	intestine
45	chr15:39790800-39793400	Weak transcription	HSMMtube	muscle

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