Variant report

Variant	rs72800722
Chromosome Location	chr2:54287114-54287115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17189589	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17268130	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68100433	0.80[EUR][1000 genomes]
rs72799245	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
2	chr2:54268400-54290800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:54273000-54292400	Weak transcription	Fetal Brain Female	brain
4	chr2:54277200-54290800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
6	chr2:54280000-54292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:54280800-54291400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:54280800-54310000	Weak transcription	Ovary	ovary
9	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
12	chr2:54281000-54291200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:54281200-54292400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:54281600-54289400	Weak transcription	Primary B cells from cord blood	blood
15	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:54282000-54288400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:54282000-54291200	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:54282200-54293800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:54283000-54290000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:54283400-54291200	Weak transcription	Pancreas	Pancrea
21	chr2:54283400-54292400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:54283600-54290600	Weak transcription	Stomach Mucosa	stomach
23	chr2:54285000-54291000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:54286400-54287400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:54286400-54287400	Enhancers	HMEC	breast
26	chr2:54286600-54287200	Strong transcription	Primary T cells from cord blood	blood
27	chr2:54286600-54287600	Enhancers	HSMM	muscle
28	chr2:54286600-54287800	Enhancers	NH-A	brain
29	chr2:54286600-54288000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:54286600-54288000	Enhancers	NHDF-Ad	bronchial
31	chr2:54286600-54288000	Enhancers	NHEK	skin
32	chr2:54286600-54288000	Enhancers	Osteobl	bone
33	chr2:54286600-54288200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:54286800-54287200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:54286800-54287200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:54286800-54287200	Enhancers	HSMMtube	muscle
37	chr2:54286800-54287600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54286800-54287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:54286800-54288000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:54287000-54287200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:54287000-54310000	Weak transcription	Primary hematopoietic stem cells	blood

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