Variant report

Variant	rs72821624
Chromosome Location	chr2:63691920-63691921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10496102	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12464471	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12470478	0.93[ASN][1000 genomes]
rs12476015	0.82[ASN][1000 genomes]
rs12478365	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17617855	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4671062	0.97[ASN][1000 genomes]
rs56219461	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72806004	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72806010	0.93[ASN][1000 genomes]
rs72806027	0.84[ASN][1000 genomes]
rs72821628	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72821630	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72821631	0.99[ASN][1000 genomes]
rs72821632	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63662000-63698000	Weak transcription	Ovary	ovary
2	chr2:63666600-63726800	Weak transcription	Gastric	stomach
3	chr2:63673600-63697800	Weak transcription	Left Ventricle	heart
4	chr2:63674400-63693200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:63675800-63712000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:63680400-63698400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:63680600-63705800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:63681600-63717800	Weak transcription	Aorta	Aorta
9	chr2:63682400-63717600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:63683400-63712800	Weak transcription	Fetal Thymus	thymus
11	chr2:63684600-63698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:63684800-63695400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:63685800-63692800	Weak transcription	Fetal Heart	heart
14	chr2:63686000-63704600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:63686200-63698400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:63686600-63693000	Weak transcription	NH-A	brain
17	chr2:63686600-63706800	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:63686800-63692000	Strong transcription	Adipose Nuclei	Adipose
19	chr2:63687000-63693200	Weak transcription	Brain Angular Gyrus	brain
20	chr2:63687400-63692200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:63687400-63701000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:63687600-63713200	Weak transcription	Fetal Kidney	kidney
23	chr2:63688000-63692000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:63688600-63692400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:63688600-63696400	Weak transcription	Fetal Stomach	stomach
26	chr2:63688600-63704600	Weak transcription	Right Ventricle	heart
27	chr2:63688600-63705000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:63688600-63727800	Weak transcription	Primary B cells from cord blood	blood
29	chr2:63688800-63700600	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:63688800-63701800	Weak transcription	Fetal Lung	lung
31	chr2:63688800-63711000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:63688800-63723000	Weak transcription	Liver	Liver
33	chr2:63689000-63700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:63689000-63712000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:63689200-63692800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:63689400-63692800	Weak transcription	Osteobl	bone
37	chr2:63689800-63695000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:63690200-63693000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:63690200-63699800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:63690200-63713600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:63690400-63693200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:63690400-63704800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:63690600-63692000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:63690600-63704600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:63690600-63733000	Weak transcription	Dnd41	blood
46	chr2:63691000-63724400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:63691200-63697000	Weak transcription	Primary T cells from cord blood	blood
48	chr2:63691400-63728000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:63691600-63692000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr2:63691600-63697200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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