Variant report

Variant	rs4909930
Chromosome Location	chr11:10475761-10475762
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	RCOR1	chr11:10475631-10478499	IMR90	lung:	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: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10770119	0.83[EUR][1000 genomes]
rs10840425	0.83[EUR][1000 genomes]
rs4909931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910141	1.00[ASN][1000 genomes]
rs4910143	0.83[EUR][1000 genomes]
rs4910144	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7949917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7950039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899011	0.93[ASN][1000 genomes]
rs899013	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4909930	AMPD3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:79 , 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	chr11:10473200-10475800	Weak transcription	Osteobl	bone
3	chr11:10473200-10476400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:10473200-10476800	Weak transcription	Gastric	stomach
5	chr11:10473200-10477000	Weak transcription	Colonic Mucosa	Colon
6	chr11:10473200-10477200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:10473200-10477200	Weak transcription	Liver	Liver
8	chr11:10473200-10478000	Enhancers	HMEC	breast
9	chr11:10473200-10512000	Weak transcription	Aorta	Aorta
10	chr11:10473400-10475800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:10473400-10475800	Weak transcription	Hela-S3	cervix
12	chr11:10473400-10476600	Weak transcription	Placenta	Placenta
13	chr11:10473400-10476600	Weak transcription	Dnd41	blood
14	chr11:10473600-10476400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:10473600-10476600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:10473600-10476600	Weak transcription	Adipose Nuclei	Adipose
17	chr11:10473600-10476600	Enhancers	Brain Angular Gyrus	brain
18	chr11:10473600-10476600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr11:10473600-10476600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:10473600-10476600	Enhancers	K562	blood
21	chr11:10473600-10476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:10473600-10477000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:10473600-10477200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr11:10473600-10477200	Weak transcription	Right Atrium	heart
25	chr11:10473600-10477400	Weak transcription	Right Ventricle	heart
26	chr11:10473600-10477800	Weak transcription	Lung	lung
27	chr11:10473600-10477800	Weak transcription	Pancreas	Pancrea
28	chr11:10473800-10475800	Weak transcription	Spleen	Spleen
29	chr11:10473800-10476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:10473800-10476600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:10473800-10476800	Weak transcription	Esophagus	oesophagus
32	chr11:10474000-10475800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:10474000-10476000	Weak transcription	Primary T cells from cord blood	blood
34	chr11:10474000-10476000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:10474000-10476000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr11:10474000-10476400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:10474000-10476600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:10474200-10475800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:10474200-10476000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:10474200-10476000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:10474200-10476000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:10474200-10476400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:10474200-10476600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:10474200-10476600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:10474200-10476600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:10474200-10482800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:10474400-10475800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:10474400-10475800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:10474400-10475800	Weak transcription	NHDF-Ad	bronchial
50	chr11:10474400-10476000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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