Variant report

Variant	rs8140238
Chromosome Location	chr22:28792583-28792584
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs61140789	1.00[AMR][1000 genomes]
rs7286036	1.00[AMR][1000 genomes]
rs7289729	1.00[AMR][1000 genomes]
rs7293211	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427735	1.00[AMR][1000 genomes]
rs73427742	1.00[AMR][1000 genomes]
rs73427769	1.00[AMR][1000 genomes]
rs73427770	1.00[AMR][1000 genomes]
rs73427775	1.00[AMR][1000 genomes]
rs73430165	1.00[AMR][1000 genomes]
rs73432204	1.00[AMR][1000 genomes]
rs73432211	1.00[AMR][1000 genomes]
rs73437891	1.00[AMR][1000 genomes]
rs73437897	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73439834	1.00[AMR][1000 genomes]
rs8137771	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138507	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28789600-28794000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr22:28789800-28794600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:28789800-28794600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr22:28789800-28796200	Enhancers	Fetal Lung	lung
5	chr22:28790400-28793000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr22:28790400-28793600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:28790400-28794600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28790400-28795400	Enhancers	Brain Substantia Nigra	brain
9	chr22:28790600-28793000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:28790600-28793200	Enhancers	Osteobl	bone
11	chr22:28790600-28793800	Enhancers	NHLF	lung
12	chr22:28790600-28794200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:28790600-28794200	Enhancers	NHDF-Ad	bronchial
14	chr22:28790600-28795600	Enhancers	Ovary	ovary
15	chr22:28791000-28793400	Weak transcription	Fetal Kidney	kidney
16	chr22:28791000-28793800	Enhancers	Brain Germinal Matrix	brain
17	chr22:28791200-28793600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:28791400-28793000	Enhancers	Fetal Intestine Small	intestine
19	chr22:28791400-28793000	Enhancers	HepG2	liver
20	chr22:28791400-28793400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:28791400-28800400	Weak transcription	Fetal Muscle Leg	muscle
22	chr22:28791600-28792800	Enhancers	HSMM	muscle
23	chr22:28791600-28792800	Enhancers	NH-A	brain
24	chr22:28791600-28793000	Enhancers	Liver	Liver
25	chr22:28791600-28795400	Weak transcription	Lung	lung
26	chr22:28791600-28797600	Weak transcription	Placenta	Placenta
27	chr22:28791800-28792800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr22:28791800-28792800	Enhancers	HUVEC	blood vessel
29	chr22:28791800-28793400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr22:28791800-28793600	Enhancers	Colon Smooth Muscle	Colon
31	chr22:28791800-28795200	Enhancers	Adipose Nuclei	Adipose
32	chr22:28791800-28795200	Enhancers	Dnd41	blood
33	chr22:28792000-28792600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr22:28792000-28792600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr22:28792000-28792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:28792000-28792600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:28792000-28792600	Enhancers	Hela-S3	cervix
38	chr22:28792000-28792800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:28792000-28792800	Enhancers	HSMMtube	muscle
40	chr22:28792000-28794600	Enhancers	Fetal Stomach	stomach
41	chr22:28792000-28795000	Enhancers	Brain Anterior Caudate	brain
42	chr22:28792000-28795200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr22:28792000-28795400	Enhancers	Brain Hippocampus Middle	brain
44	chr22:28792000-28795600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr22:28792200-28792600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr22:28792200-28792600	Enhancers	Pancreas	Pancrea
47	chr22:28792200-28792600	Enhancers	Right Ventricle	heart
48	chr22:28792200-28792600	Enhancers	K562	blood
49	chr22:28792200-28792800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:28792200-28792800	Enhancers	Fetal Brain Female	brain

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