Variant report

Variant	rs56752813
Chromosome Location	chr22:29391174-29391175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16986964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16986970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16987068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57111962	1.00[AMR][1000 genomes]
rs57724605	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59264876	1.00[AMR][1000 genomes]
rs60213855	1.00[AMR][1000 genomes]
rs6519768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881171	1.00[AMR][1000 genomes]
rs73881179	1.00[AMR][1000 genomes]
rs73881184	1.00[AMR][1000 genomes]
rs73881191	1.00[AMR][1000 genomes]
rs73881193	1.00[AMR][1000 genomes]
rs73882412	1.00[AMR][1000 genomes]
rs73882417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882432	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882446	1.00[AMR][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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
6	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29379600-29400800	Weak transcription	Fetal Brain Female	brain
9	chr22:29380800-29400800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr22:29381000-29393000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:29381000-29395600	Weak transcription	Esophagus	oesophagus
12	chr22:29381200-29400400	Weak transcription	Lung	lung
13	chr22:29381600-29395400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:29382000-29400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:29382400-29393200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29383400-29400200	Weak transcription	Right Atrium	heart
17	chr22:29383600-29400400	Weak transcription	Aorta	Aorta
18	chr22:29383800-29395400	Weak transcription	NHEK	skin
19	chr22:29383800-29399800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr22:29383800-29400000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr22:29384600-29395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr22:29385000-29395200	Weak transcription	Left Ventricle	heart
23	chr22:29385000-29395600	Weak transcription	A549	lung
24	chr22:29385600-29394600	Weak transcription	Fetal Kidney	kidney
25	chr22:29385600-29395400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr22:29385600-29400800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29385600-29401000	Weak transcription	Colon Smooth Muscle	Colon
28	chr22:29385800-29397800	Weak transcription	Fetal Lung	lung
29	chr22:29386000-29395600	Weak transcription	Osteobl	bone
30	chr22:29386200-29392200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr22:29386200-29395400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:29386200-29395600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:29386200-29400000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:29386400-29395400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr22:29386400-29395800	Weak transcription	HMEC	breast
36	chr22:29386600-29395400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:29386800-29395600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:29387000-29395400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:29388600-29400400	Weak transcription	Placenta	Placenta
40	chr22:29388800-29399200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr22:29388800-29400200	Weak transcription	Brain Germinal Matrix	brain
42	chr22:29388800-29400800	Weak transcription	Gastric	stomach
43	chr22:29389000-29392800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:29389000-29394800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:29389000-29395200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:29389000-29395600	Weak transcription	HSMM	muscle
47	chr22:29389000-29400000	Weak transcription	Brain Substantia Nigra	brain
48	chr22:29389200-29395400	Weak transcription	Ovary	ovary
49	chr22:29389200-29400000	Weak transcription	Brain Hippocampus Middle	brain
50	chr22:29389400-29394800	Weak transcription	Brain Anterior Caudate	brain

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