Variant report

Variant	rs11912793
Chromosome Location	chr22:31102570-31102571
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31097943..31099790-chr22:31101599..31104333,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11913730	1.00[AMR][1000 genomes]
rs16988993	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35941285	1.00[AMR][1000 genomes]
rs57114503	1.00[AMR][1000 genomes]
rs6518714	1.00[AMR][1000 genomes]
rs7287698	1.00[AMR][1000 genomes]
rs73400353	1.00[AMR][1000 genomes]
rs73400355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73400364	1.00[AMR][1000 genomes]
rs73400370	1.00[AMR][1000 genomes]
rs73400382	1.00[AMR][1000 genomes]
rs8137597	1.00[AMR][1000 genomes]
rs8138072	1.00[AMR][1000 genomes]
rs8139321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8143079	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11912793	DUSP18	cis	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31092200-31111000	Weak transcription	Fetal Intestine Small	intestine
2	chr22:31098400-31102800	Weak transcription	NHLF	lung
3	chr22:31099600-31103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:31099800-31103800	Enhancers	Fetal Brain Male	brain
5	chr22:31100000-31103000	Enhancers	Brain Substantia Nigra	brain
6	chr22:31100200-31102600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr22:31100800-31103200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:31101000-31103000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:31101000-31103000	Enhancers	Brain Cingulate Gyrus	brain
10	chr22:31101200-31108000	Weak transcription	Gastric	stomach
11	chr22:31101600-31102800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:31101600-31102800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:31101600-31102800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr22:31101600-31102800	Flanking Active TSS	GM12878-XiMat	blood
15	chr22:31101600-31103000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:31101600-31103000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr22:31101600-31103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:31101600-31103000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr22:31101600-31103000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr22:31101600-31103000	Enhancers	Brain Hippocampus Middle	brain
21	chr22:31101600-31103000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr22:31101600-31103000	Enhancers	HSMM	muscle
23	chr22:31101600-31103200	Enhancers	HSMMtube	muscle
24	chr22:31101800-31102600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr22:31101800-31102600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:31101800-31102800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:31101800-31102800	Enhancers	Brain Angular Gyrus	brain
28	chr22:31101800-31103000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr22:31101800-31103000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:31101800-31103000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:31101800-31103000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr22:31101800-31103000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:31101800-31103000	Enhancers	NH-A	brain
34	chr22:31101800-31104800	Weak transcription	Pancreas	Pancrea
35	chr22:31102000-31102600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:31102000-31102600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr22:31102000-31102800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:31102000-31102800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr22:31102000-31103000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:31102200-31103000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr22:31102200-31103000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr22:31102200-31103000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr22:31102200-31105400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:31102400-31102600	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr22:31102400-31102600	Enhancers	Fetal Brain Female	brain
46	chr22:31102400-31102600	Enhancers	NHDF-Ad	bronchial
47	chr22:31102400-31102600	Enhancers	Osteobl	bone
48	chr22:31102400-31102800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr22:31102400-31102800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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