Variant report

Variant	rs55940819
Chromosome Location	chr20:13377542-13377543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1812562	0.83[EUR][1000 genomes]
rs28867078	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs45489891	0.96[EUR][1000 genomes]
rs45602236	0.96[EUR][1000 genomes]
rs59051161	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6033689	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6033690	0.83[EUR][1000 genomes]
rs6042061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042063	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042068	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6042069	0.83[EUR][1000 genomes]
rs6042076	0.83[EUR][1000 genomes]
rs6042080	0.83[EUR][1000 genomes]
rs6042105	0.96[EUR][1000 genomes]
rs6042145	0.96[EUR][1000 genomes]
rs6042151	0.96[EUR][1000 genomes]
rs6105082	0.83[EUR][1000 genomes]
rs6105083	0.83[EUR][1000 genomes]
rs6109848	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6109849	0.83[EUR][1000 genomes]
rs6109850	1.00[EUR][1000 genomes]
rs6109882	0.96[EUR][1000 genomes]
rs8121784	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425983	chr20:13046768-13461834	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv21228	chr20:13283535-13447810	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1062049	chr20:13347580-13477455	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv544186	chr20:13347580-13477455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13362800-13380600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:13364400-13415400	Weak transcription	Right Ventricle	heart
3	chr20:13364600-13379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:13364600-13416800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr20:13364800-13377600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:13367200-13378400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:13368600-13378400	Weak transcription	GM12878-XiMat	blood
8	chr20:13368600-13382400	Weak transcription	HMEC	breast
9	chr20:13368600-13397400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr20:13368800-13392200	Weak transcription	Aorta	Aorta
11	chr20:13369000-13411200	Strong transcription	Dnd41	blood
12	chr20:13369400-13377600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr20:13369400-13380200	Weak transcription	Psoas Muscle	Psoas
14	chr20:13369400-13397000	Weak transcription	Primary B cells from cord blood	blood
15	chr20:13369400-13397200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr20:13369600-13397000	Weak transcription	Fetal Thymus	thymus
17	chr20:13370000-13378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr20:13370000-13382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:13371400-13413600	Weak transcription	Ovary	ovary
20	chr20:13371800-13397200	Weak transcription	Primary T cells from cord blood	blood
21	chr20:13372000-13382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr20:13372000-13395800	Weak transcription	HepG2	liver
23	chr20:13372000-13396400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr20:13372000-13397400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr20:13372000-13397400	Weak transcription	Left Ventricle	heart
26	chr20:13372000-13397400	Weak transcription	Thymus	Thymus
27	chr20:13372200-13381400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr20:13374200-13380600	Weak transcription	Spleen	Spleen
29	chr20:13374200-13417200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr20:13374400-13380400	Weak transcription	Fetal Lung	lung
31	chr20:13374400-13382400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:13374400-13382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr20:13374400-13384000	Weak transcription	Pancreas	Pancrea
34	chr20:13374400-13410800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr20:13374600-13397400	Weak transcription	Fetal Intestine Small	intestine
36	chr20:13374600-13399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:13374600-13405800	Weak transcription	Fetal Stomach	stomach
38	chr20:13375800-13377600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:13375800-13378800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr20:13375800-13379200	Enhancers	HSMM	muscle
41	chr20:13375800-13379400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr20:13376000-13379200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:13376400-13378800	Enhancers	HSMMtube	muscle
44	chr20:13376400-13379000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr20:13376600-13378400	Enhancers	Stomach Smooth Muscle	stomach
46	chr20:13376600-13378600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr20:13376800-13377600	Weak transcription	NHDF-Ad	bronchial
48	chr20:13376800-13378200	Enhancers	Fetal Heart	heart
49	chr20:13376800-13378600	Enhancers	Osteobl	bone
50	chr20:13376800-13381600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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