Variant report

Variant	rs55633042
Chromosome Location	chr2:54936604-54936605
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs56196255	1.00[AMR][1000 genomes]
rs56951671	1.00[AMR][1000 genomes]
rs57406175	1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	1.00[AMR][1000 genomes]
rs58204287	1.00[AMR][1000 genomes]
rs58924163	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58987524	1.00[AMR][1000 genomes]
rs59061110	1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	1.00[AMR][1000 genomes]
rs60542617	1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs6740921	1.00[AMR][1000 genomes]
rs73934512	1.00[AMR][1000 genomes]
rs73934514	1.00[AMR][1000 genomes]
rs73934808	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934809	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73937514	1.00[AMR][1000 genomes]
rs73938306	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7570695	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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54935400-54936800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:54935400-54937000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
3	chr2:54935600-54936800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
5	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
6	chr2:54935600-54936800	Active TSS	Brain Cingulate Gyrus	brain
7	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
8	chr2:54935600-54936800	Active TSS	Fetal Brain Female	brain
9	chr2:54935600-54937000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:54935600-54937000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:54935600-54937600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:54935800-54936800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:54935800-54936800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
15	chr2:54935800-54936800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:54935800-54936800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:54935800-54936800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:54935800-54936800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:54935800-54936800	Active TSS	Brain Angular Gyrus	brain
21	chr2:54935800-54936800	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr2:54935800-54936800	Active TSS	Placenta	Placenta
23	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr2:54935800-54936800	Active TSS	Left Ventricle	heart
25	chr2:54935800-54936800	Active TSS	Lung	lung
26	chr2:54935800-54936800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:54935800-54936800	Active TSS	Rectal Smooth Muscle	rectum
28	chr2:54935800-54936800	Active TSS	Right Atrium	heart
29	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr2:54935800-54937000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:54935800-54937000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:54935800-54937000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:54935800-54937000	Flanking Active TSS	Liver	Liver
34	chr2:54935800-54937000	Active TSS	Fetal Kidney	kidney
35	chr2:54935800-54937000	Flanking Active TSS	Right Ventricle	heart
36	chr2:54935800-54937000	Flanking Active TSS	NHEK	skin
37	chr2:54936000-54936800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
38	chr2:54936000-54936800	Bivalent/Poised TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:54936000-54936800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
40	chr2:54936000-54936800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:54936000-54936800	Active TSS	Aorta	Aorta
42	chr2:54936000-54936800	Active TSS	Brain Substantia Nigra	brain
43	chr2:54936000-54936800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr2:54936000-54936800	Active TSS	Ovary	ovary
45	chr2:54936000-54936800	Bivalent/Poised TSS	GM12878-XiMat	blood
46	chr2:54936000-54937000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:54936000-54937000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:54936200-54936800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:54936200-54936800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr2:54936200-54937000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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