Variant report

Variant	rs17023253
Chromosome Location	chr2:100481452-100481453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10460488	0.86[EUR][1000 genomes]
rs13405175	0.88[EUR][1000 genomes]
rs13419977	0.86[EUR][1000 genomes]
rs13433082	0.86[EUR][1000 genomes]
rs17023084	0.86[EUR][1000 genomes]
rs17023254	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes]
rs17351577	0.88[EUR][1000 genomes]
rs17352234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes]
rs17436127	0.88[EUR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34454377	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147569	0.91[EUR][1000 genomes]
rs62147614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147618	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62147649	0.91[EUR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes]
rs62150103	0.88[EUR][1000 genomes]
rs62150104	0.88[EUR][1000 genomes]
rs62150105	0.88[EUR][1000 genomes]
rs62150106	0.85[EUR][1000 genomes]
rs62150108	0.88[EUR][1000 genomes]
rs62150110	0.86[EUR][1000 genomes]
rs62150111	0.86[EUR][1000 genomes]
rs62150114	0.88[EUR][1000 genomes]
rs62150116	0.88[EUR][1000 genomes]
rs6711546	0.88[EUR][1000 genomes]
rs6755935	0.86[EUR][1000 genomes]
rs6761899	0.86[EUR][1000 genomes]
rs940459	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100443800-100496800	Weak transcription	Ovary	ovary
2	chr2:100471600-100481600	Weak transcription	Psoas Muscle	Psoas
3	chr2:100474400-100481800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:100474800-100481600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:100475400-100483800	Enhancers	Osteobl	bone
6	chr2:100477000-100484800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:100477400-100482800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:100477400-100483000	Enhancers	NH-A	brain
9	chr2:100478000-100482600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:100478000-100490200	Weak transcription	Thymus	Thymus
11	chr2:100479000-100482400	Weak transcription	Placenta	Placenta
12	chr2:100479000-100483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:100479200-100482000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:100479200-100482400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:100479200-100484000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:100479200-100484000	Weak transcription	Fetal Thymus	thymus
17	chr2:100479800-100482800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:100479800-100482800	Enhancers	Fetal Lung	lung
19	chr2:100480200-100481600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:100480200-100482000	Enhancers	Right Atrium	heart
21	chr2:100480400-100482000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:100480400-100482000	Enhancers	Gastric	stomach
23	chr2:100480400-100482200	Enhancers	Fetal Brain Male	brain
24	chr2:100480400-100482400	Enhancers	Liver	Liver
25	chr2:100480400-100482600	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr2:100480400-100484800	Enhancers	Fetal Heart	heart
27	chr2:100480600-100482000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:100480600-100482400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:100480800-100481600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:100480800-100481600	Enhancers	Fetal Brain Female	brain
31	chr2:100480800-100482000	Enhancers	Left Ventricle	heart
32	chr2:100481000-100481600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr2:100481000-100481800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:100481000-100481800	Enhancers	Brain Substantia Nigra	brain
35	chr2:100481000-100481800	Enhancers	Small Intestine	intestine
36	chr2:100481000-100482000	Enhancers	Brain Angular Gyrus	brain
37	chr2:100481000-100482000	Enhancers	Brain Anterior Caudate	brain
38	chr2:100481000-100482000	Enhancers	Lung	lung
39	chr2:100481000-100482000	Enhancers	Right Ventricle	heart
40	chr2:100481000-100482000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:100481000-100482000	Enhancers	HUVEC	blood vessel
42	chr2:100481000-100482200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:100481000-100482600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:100481000-100482600	Enhancers	Adipose Nuclei	Adipose
45	chr2:100481000-100483200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:100481200-100481800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:100481200-100481800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:100481200-100481800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:100481200-100481800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:100481200-100481800	Enhancers	Brain Hippocampus Middle	brain

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