Variant report

Variant	rs2261492
Chromosome Location	chr20:23902127-23902128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2260356	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs755032	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833944	chr20:23806288-24021865	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1062441	chr20:23861343-23955100	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3437111	chr20:23898252-23902550	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv979494	chr20:23900040-23910180	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23897400-23903000	Enhancers	Fetal Muscle Trunk	muscle
2	chr20:23897400-23903200	Enhancers	Fetal Muscle Leg	muscle
3	chr20:23898600-23903200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr20:23899000-23902600	Enhancers	Fetal Thymus	thymus
5	chr20:23899400-23903400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr20:23899600-23903000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:23899800-23902200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr20:23899800-23902800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:23900000-23902200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr20:23900000-23902400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:23900000-23902400	Enhancers	Esophagus	oesophagus
12	chr20:23900000-23902600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr20:23900000-23902800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:23900000-23902800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr20:23900200-23902200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr20:23900200-23902200	Enhancers	HSMMtube	muscle
17	chr20:23900400-23902200	Enhancers	NHDF-Ad	bronchial
18	chr20:23900400-23902400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr20:23900600-23902200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr20:23900800-23902400	Enhancers	Fetal Stomach	stomach
21	chr20:23901400-23902400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr20:23901400-23902400	Enhancers	Left Ventricle	heart
23	chr20:23901600-23902400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr20:23901600-23902400	Enhancers	Right Atrium	heart
25	chr20:23901600-23902400	Enhancers	Right Ventricle	heart
26	chr20:23901600-23902600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr20:23901800-23902200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr20:23901800-23902400	Enhancers	Lung	lung
29	chr20:23902000-23904400	Weak transcription	Pancreas	Pancrea
30	chr20:23902000-23907800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr20:23902000-23907800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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