Variant report

Variant	rs17464525
Chromosome Location	chr1:114443899-114443900
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	EBF1	chr1:114443841-114444057	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114439933..114443921-chr1:114470851..114474658,5	K562	blood:

Variant related genes	Relation type
DCLRE1B	TF binding region
AP4B1	TF binding region
ENSG00000235527	Chromatin interaction
ENSG00000163349	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10745340	1.00[YRI][hapmap]
rs10776775	1.00[YRI][hapmap]
rs10858022	1.00[YRI][hapmap]
rs11582409	0.85[YRI][hapmap]
rs11584821	0.85[YRI][hapmap]
rs1217382	0.87[YRI][hapmap]
rs1217391	1.00[YRI][hapmap]
rs1217392	1.00[YRI][hapmap]
rs17510162	0.85[YRI][hapmap]
rs2296176	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3195954	0.85[GIH][hapmap]
rs3765598	0.85[GIH][hapmap];0.85[YRI][hapmap]
rs3789613	1.00[YRI][hapmap]
rs3811021	0.85[GIH][hapmap];0.85[YRI][hapmap]
rs3827733	0.85[GIH][hapmap];0.85[YRI][hapmap]
rs6661817	1.00[YRI][hapmap]
rs6700802	0.85[YRI][hapmap]
rs7523862	1.00[YRI][hapmap]
rs7524200	1.00[YRI][hapmap]

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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs17464525	AP4B1	cis	brain	BrainEAC
rs17464525	OVGP1	cis	cerebellum	SCAN
rs17464525	AP4B1-AS1	cis	Whole Blood	GTEx
rs17464525	ENSG00000134262	cis	multi-tissue	Pritchard
rs17464525	AP4B1	cis	Whole Blood	GTEx
rs17464525	DCLRE1B	Cis_1M	lymphoblastoid	RTeQTL
rs17464525	RHOC	cis	cerebellum	SCAN
rs17464525	DCLRE1B	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
3	chr1:114431800-114445400	Weak transcription	Stomach Mucosa	stomach
4	chr1:114434800-114446200	Weak transcription	Fetal Heart	heart
5	chr1:114435600-114446200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:114435600-114446400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114435800-114444400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:114436000-114444600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:114436000-114446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:114436200-114444600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:114436200-114444600	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:114436200-114445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:114436200-114446600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:114436200-114446600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:114436400-114444200	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:114436400-114444600	Strong transcription	Primary T cells from cord blood	blood
17	chr1:114436400-114445000	Strong transcription	Liver	Liver
18	chr1:114436400-114445200	Strong transcription	Brain Anterior Caudate	brain
19	chr1:114436400-114445600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:114436600-114444600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:114436600-114445600	Strong transcription	Fetal Thymus	thymus
22	chr1:114436800-114444400	Strong transcription	Dnd41	blood
23	chr1:114436800-114445200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:114436800-114445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:114436800-114445600	Strong transcription	Osteobl	bone
26	chr1:114436800-114446400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:114437000-114444600	Strong transcription	Thymus	Thymus
28	chr1:114437000-114445600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:114437000-114445600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:114437000-114445600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:114437200-114444000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:114437200-114444400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:114437200-114444600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:114437200-114445600	Strong transcription	Fetal Muscle Leg	muscle
35	chr1:114437400-114444200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:114437400-114444400	Strong transcription	Placenta	Placenta
37	chr1:114437400-114445200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:114437400-114445400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:114437400-114445600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:114437600-114444600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:114437600-114446400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:114437800-114444400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:114437800-114445400	Strong transcription	Brain Germinal Matrix	brain
44	chr1:114437800-114445400	Strong transcription	Brain Hippocampus Middle	brain
45	chr1:114437800-114445400	Strong transcription	Left Ventricle	heart
46	chr1:114438800-114445200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:114439200-114446400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:114439400-114444400	Strong transcription	NH-A	brain
49	chr1:114440200-114445200	Strong transcription	K562	blood
50	chr1:114440200-114445400	Strong transcription	Primary hematopoietic stem cells	blood

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