Variant report

Variant	rs72915028
Chromosome Location	chr2:54722521-54722522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs60282658	1.00[AMR][1000 genomes]
rs6709549	1.00[AMR][1000 genomes]
rs6728822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6743902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915019	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915040	1.00[AMR][1000 genomes]
rs72915054	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874150	chr2:54684557-54755229	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv874151	chr2:54684557-54761329	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002611	chr2:54718022-54752839	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54710600-54725000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:54710800-54729600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:54711600-54724400	Weak transcription	HSMMtube	muscle
4	chr2:54711600-54726000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:54711800-54726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54712400-54727800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54712400-54729400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:54712400-54737000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:54712600-54727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:54714600-54724200	Weak transcription	A549	lung
11	chr2:54715600-54728200	Weak transcription	Brain Germinal Matrix	brain
12	chr2:54715800-54724600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:54716000-54730000	Weak transcription	NH-A	brain
14	chr2:54716200-54728600	Weak transcription	Fetal Brain Female	brain
15	chr2:54716400-54724200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:54716400-54724600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:54717000-54729800	Weak transcription	Fetal Brain Male	brain
18	chr2:54717800-54732800	Enhancers	Brain Anterior Caudate	brain
19	chr2:54718200-54723800	Weak transcription	Brain Substantia Nigra	brain
20	chr2:54718200-54724200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:54718200-54725200	Weak transcription	Pancreas	Pancrea
22	chr2:54718200-54726800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:54718200-54727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:54718400-54723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:54718400-54723800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:54718600-54727000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:54719000-54724200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:54719000-54725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:54719000-54725800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:54719000-54751800	Weak transcription	Aorta	Aorta
31	chr2:54719400-54726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:54719800-54723400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:54719800-54724200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:54719800-54728000	Weak transcription	Fetal Intestine Small	intestine
35	chr2:54719800-54728200	Weak transcription	Gastric	stomach
36	chr2:54720000-54723800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:54720000-54724000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:54720000-54724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:54720000-54724400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:54720000-54724600	Weak transcription	Liver	Liver
41	chr2:54720400-54723800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:54720600-54722600	Enhancers	Fetal Heart	heart
43	chr2:54720800-54722600	Enhancers	Brain Hippocampus Middle	brain
44	chr2:54720800-54722600	Enhancers	Right Ventricle	heart
45	chr2:54721000-54722600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:54721000-54722600	Strong transcription	HepG2	liver
47	chr2:54721200-54723400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:54721200-54726200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:54721400-54722600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:54721400-54725600	Weak transcription	Rectal Smooth Muscle	rectum

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