Variant report

Variant	rs11042811
Chromosome Location	chr11:10473889-10473890
allele	C/T
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	TAL1	chr11:10473787-10474055	K562	blood:	n/a	chr11:10473801-10473819
2	JUND	chr11:10473857-10474056	K562	blood:	n/a	chr11:10473975-10473984
3	RCOR1	chr11:10473795-10474017	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10469398..10472547-chr11:10473380..10477623,4	K562	blood:
2	chr11:10470733..10474944-chr11:10476648..10480616,5	MCF-7	breast:
3	chr11:10466561..10468211-chr11:10473032..10475120,2	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10840419	0.84[ASN][1000 genomes]
rs10840420	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840422	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042812	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602632	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604780	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11604833	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11604838	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11605232	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11606703	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2071020	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6484290	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7111970	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7112321	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7929999	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7938316	0.95[ASN][1000 genomes]
rs899010	0.98[ASN][1000 genomes]
rs936513	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9971562	0.81[EUR][1000 genomes];0.81[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11042811	AMPD3	cis	intralobular white matter	BrainEAC
rs11042811	AMPD3	cis	putamen	BrainEAC
rs11042811	AMPD3	cis	brain	BrainEAC

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10471600-10474000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:10471800-10474400	Flanking Active TSS	NHEK	skin
3	chr11:10472600-10474200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:10472800-10474000	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr11:10472800-10474200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:10472800-10474400	Flanking Active TSS	Brain Hippocampus Middle	brain
7	chr11:10473000-10474400	Enhancers	NHDF-Ad	bronchial
8	chr11:10473000-10478400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:10473200-10474000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:10473200-10474000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:10473200-10474000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:10473200-10474000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:10473200-10474000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:10473200-10474200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:10473200-10474200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:10473200-10474200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:10473200-10474200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:10473200-10474400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:10473200-10474400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:10473200-10474400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:10473200-10475000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:10473200-10475800	Weak transcription	Osteobl	bone
23	chr11:10473200-10476400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:10473200-10476800	Weak transcription	Gastric	stomach
25	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
26	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:10473200-10477200	Weak transcription	Liver	Liver
28	chr11:10473200-10478000	Enhancers	HMEC	breast
29	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
30	chr11:10473400-10474000	Enhancers	Primary T cells from cord blood	blood
31	chr11:10473400-10474000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:10473400-10474000	Weak transcription	Stomach Mucosa	stomach
33	chr11:10473400-10474000	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:10473400-10474200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:10473400-10474200	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:10473400-10475400	Weak transcription	NHLF	lung
37	chr11:10473400-10475600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:10473400-10475800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:10473400-10475800	Weak transcription	Hela-S3	cervix
40	chr11:10473400-10476600	Weak transcription	Placenta	Placenta
41	chr11:10473400-10476600	Weak transcription	Dnd41	blood
42	chr11:10473600-10474000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:10473600-10474000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:10473600-10474000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:10473600-10474000	Enhancers	Brain Substantia Nigra	brain
46	chr11:10473600-10474200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr11:10473600-10474200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:10473600-10474400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr11:10473600-10474400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:10473600-10474400	Enhancers	Small Intestine	intestine

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