Variant report

Variant	rs4909932
Chromosome Location	chr11:10475967-10475968
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	JUN	chr11:10475959-10478519	K562	blood:	n/a	chr11:10476625-10476633 chr11:10476624-10476634 chr11:10477854-10477864 chr11:10476624-10476634 chr11:10478179-10478190 chr11:10477748-10477762
2	POLR2A	chr11:10475934-10478530	K562	blood:	n/a	n/a
3	HEY1	chr11:10475941-10476921	K562	blood:	n/a	n/a
4	NR2F2	chr11:10475949-10476998	K562	blood:	n/a	n/a
5	POLR2A	chr11:10475962-10478174	U87	brain:	n/a	n/a
6	RCOR1	chr11:10475631-10478499	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:10475962-10478168	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10427808..10432250-chr11:10475440..10478017,5	K562	blood:
2	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:

Variant related genes	Relation type
AMPD3	TF binding region
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10770119	0.83[EUR][1000 genomes]
rs10840425	0.96[CEU][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs12419888	0.85[CHB][hapmap]
rs2071020	0.80[JPT][hapmap]
rs4909930	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910141	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4910143	1.00[CEU][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs4910144	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7119498	0.81[CHB][hapmap]
rs7939845	0.81[CHB][hapmap]
rs7949917	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950039	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899010	0.80[JPT][hapmap]
rs899011	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs899013	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv896990	chr11:10458596-10514707	Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4909932	AMPD3	cis	parietal	SCAN
rs4909932	AMPD3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10473200-10476400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:10473200-10476800	Weak transcription	Gastric	stomach
4	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
5	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:10473200-10477200	Weak transcription	Liver	Liver
7	chr11:10473200-10478000	Enhancers	HMEC	breast
8	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
9	chr11:10473400-10476600	Weak transcription	Placenta	Placenta
10	chr11:10473400-10476600	Weak transcription	Dnd41	blood
11	chr11:10473600-10476400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:10473600-10476600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:10473600-10476600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:10473600-10476600	Enhancers	Brain Angular Gyrus	brain
15	chr11:10473600-10476600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:10473600-10476600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:10473600-10476600	Enhancers	K562	blood
18	chr11:10473600-10476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:10473600-10477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:10473600-10477200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr11:10473600-10477200	Weak transcription	Right Atrium	heart
22	chr11:10473600-10477400	Weak transcription	Right Ventricle	heart
23	chr11:10473600-10477800	Weak transcription	Lung	lung
24	chr11:10473600-10477800	Weak transcription	Pancreas	Pancrea
25	chr11:10473800-10476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:10473800-10476600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:10473800-10476800	Weak transcription	Esophagus	oesophagus
28	chr11:10474000-10476000	Weak transcription	Primary T cells from cord blood	blood
29	chr11:10474000-10476000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:10474000-10476000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:10474000-10476400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:10474000-10476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:10474200-10476000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:10474200-10476000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:10474200-10476000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:10474200-10476400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:10474200-10476600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:10474200-10476600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:10474200-10476600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:10474400-10476000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:10474400-10476200	Enhancers	NHEK	skin
43	chr11:10474400-10476800	Weak transcription	Small Intestine	intestine
44	chr11:10474400-10477600	Enhancers	Brain Substantia Nigra	brain
45	chr11:10475200-10476200	Enhancers	Brain Hippocampus Middle	brain
46	chr11:10475400-10476000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:10475400-10476600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:10475400-10476800	Enhancers	NHLF	lung
49	chr11:10475400-10477200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:10475400-10477600	Enhancers	Fetal Muscle Leg	muscle

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