Variant report

Variant	rs775224
Chromosome Location	chr3:112992552-112992553
allele	C/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	MAFF	chr3:112992474-112992807	K562	blood:	n/a	chr3:112992644-112992662 chr3:112992643-112992657
2	MAFK	chr3:112992491-112992800	K562	blood:	n/a	chr3:112992649-112992660 chr3:112992642-112992658 chr3:112992643-112992657 chr3:112992650-112992661 chr3:112992650-112992661 chr3:112992640-112992660 chr3:112992645-112992661 chr3:112992645-112992660 chr3:112992648-112992662
3	MAFK	chr3:112992467-112992835	HepG2	liver:	n/a	chr3:112992649-112992660 chr3:112992642-112992658 chr3:112992643-112992657 chr3:112992650-112992661 chr3:112992650-112992661 chr3:112992640-112992660 chr3:112992645-112992661 chr3:112992645-112992660 chr3:112992648-112992662
4	MAFF	chr3:112992466-112992823	HepG2	liver:	n/a	chr3:112992644-112992662 chr3:112992643-112992657
5	MAFK	chr3:112992478-112992728	Hela-S3	cervix:	n/a	chr3:112992649-112992660 chr3:112992642-112992658 chr3:112992643-112992657 chr3:112992650-112992661 chr3:112992650-112992661 chr3:112992640-112992660 chr3:112992645-112992661 chr3:112992645-112992660 chr3:112992648-112992662
6	MAFK	chr3:112992477-112992832	HepG2	liver:	n/a	chr3:112992649-112992660 chr3:112992642-112992658 chr3:112992643-112992657 chr3:112992650-112992661 chr3:112992650-112992661 chr3:112992640-112992660 chr3:112992645-112992661 chr3:112992645-112992660 chr3:112992648-112992662
7	MAFK	chr3:112992464-112992836	IMR90	lung:	n/a	chr3:112992649-112992660 chr3:112992642-112992658 chr3:112992643-112992657 chr3:112992650-112992661 chr3:112992650-112992661 chr3:112992640-112992660 chr3:112992645-112992661 chr3:112992645-112992660 chr3:112992648-112992662

Variant related genes	Relation type
BOC	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2936725	0.84[AMR][1000 genomes]
rs712529	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs775226	0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs775228	0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs775229	0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv877348	chr3:112914756-113012509	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs775224	WDR52	cis	brain	BrainEAC

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112969000-112995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:112969800-112994200	Weak transcription	Spleen	Spleen
3	chr3:112973600-112993000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:112973600-112997200	Weak transcription	Colonic Mucosa	Colon
5	chr3:112974200-112994600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:112981600-112994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:112982800-112993600	Weak transcription	HMEC	breast
8	chr3:112983800-112995000	Weak transcription	Lung	lung
9	chr3:112984000-112994400	Weak transcription	HSMMtube	muscle
10	chr3:112984200-112993600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:112984200-112994400	Weak transcription	HSMM	muscle
12	chr3:112984600-112993400	Weak transcription	Fetal Brain Male	brain
13	chr3:112984800-112993000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:112984800-112998400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:112984800-113016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:112985400-112993600	Strong transcription	Fetal Lung	lung
17	chr3:112986200-112994200	Strong transcription	Ovary	ovary
18	chr3:112986400-112993000	Strong transcription	Fetal Intestine Small	intestine
19	chr3:112986400-112994600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:112986600-112993800	Weak transcription	Brain Substantia Nigra	brain
21	chr3:112987200-112993400	Strong transcription	Fetal Stomach	stomach
22	chr3:112987200-112994400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:112987800-112996000	Enhancers	Pancreas	Pancrea
24	chr3:112988000-112993600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:112988000-112993800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:112988000-113003000	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr3:112988200-112992600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:112988200-112993400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:112988200-112993600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:112988200-112993800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:112988200-112994200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:112988200-112994200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:112988200-112994600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:112988400-112994000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:112988400-112994600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:112988400-112996800	Weak transcription	Placenta	Placenta
37	chr3:112989000-112993000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:112989000-112993600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:112989000-112994000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:112989000-112997000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:112989200-112993600	Strong transcription	Rectal Smooth Muscle	rectum
42	chr3:112989400-112993800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:112989400-112993800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:112989400-112994200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:112989600-112994200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:112989800-112993400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:112989800-112994400	Weak transcription	NH-A	brain
48	chr3:112990200-112994800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr3:112990400-112992800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:112990400-112993800	Strong transcription	Colon Smooth Muscle	Colon

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