Variant report

Variant	rs1203911
Chromosome Location	chr20:22564333-22564334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1203870	1.00[EUR][1000 genomes]
rs1203885	1.00[EUR][1000 genomes]
rs1203887	1.00[EUR][1000 genomes]
rs1203888	1.00[EUR][1000 genomes]
rs1203893	1.00[EUR][1000 genomes]
rs1203897	1.00[EUR][1000 genomes]
rs1203900	1.00[EUR][1000 genomes]
rs1203901	1.00[AMR][1000 genomes]
rs1203906	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203912	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1203914	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538219	1.00[AMR][1000 genomes]
rs6048175	1.00[AMR][1000 genomes]
rs6048181	1.00[AMR][1000 genomes]
rs6082741	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	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr20:22561600-22566400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:22562400-22564400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:22562600-22564400	Bivalent/Poised TSS	Stomach Mucosa	stomach
5	chr20:22562600-22565200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr20:22562800-22564400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:22562800-22566000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:22562800-22566200	Active TSS	Liver	Liver
9	chr20:22562800-22566400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr20:22562800-22566400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr20:22562800-22566400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr20:22563000-22564400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr20:22563000-22565000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr20:22563200-22564400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr20:22563200-22564400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr20:22563200-22564400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
17	chr20:22563200-22564400	Bivalent Enhancer	Left Ventricle	heart
18	chr20:22563200-22564400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
19	chr20:22563200-22565000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr20:22563200-22565800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr20:22563200-22566000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr20:22563200-22566200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr20:22563400-22564400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
24	chr20:22563400-22564400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:22563400-22564400	Flanking Bivalent TSS/Enh	HMEC	breast
26	chr20:22563400-22564600	Active TSS	Right Atrium	heart
27	chr20:22563400-22565000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr20:22563400-22565200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:22563400-22565800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:22563400-22566000	Active TSS	Rectal Smooth Muscle	rectum
31	chr20:22563400-22566200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr20:22563400-22566200	Active TSS	A549	lung
33	chr20:22563600-22564400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr20:22563600-22564400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
35	chr20:22563600-22564400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr20:22563600-22564400	Bivalent/Poised TSS	HepG2	liver
37	chr20:22563600-22564400	Flanking Bivalent TSS/Enh	NHEK	skin
38	chr20:22563600-22564600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
39	chr20:22563600-22565800	Bivalent/Poised TSS	Small Intestine	intestine
40	chr20:22563600-22566200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr20:22563800-22564400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:22563800-22564400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:22563800-22564400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr20:22563800-22564400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:22563800-22564400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
46	chr20:22563800-22564400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:22563800-22564400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr20:22563800-22564400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
49	chr20:22563800-22564400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
50	chr20:22563800-22564600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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