Variant report

Variant	rs62181673
Chromosome Location	chr2:172388780-172388781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13392902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13414895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13430202	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62181674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181675	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181677	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62181678	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183549	0.86[AMR][1000 genomes]
rs7596578	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:172381000-172397800	Weak transcription	Gastric	stomach
3	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
4	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
5	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
6	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
9	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
10	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach
11	chr2:172382000-172399000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:172382400-172397800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:172386000-172389000	Enhancers	Adipose Nuclei	Adipose
14	chr2:172386400-172397800	Weak transcription	Aorta	Aorta
15	chr2:172386400-172419800	Weak transcription	Lung	lung
16	chr2:172386600-172391200	Weak transcription	Fetal Kidney	kidney
17	chr2:172386600-172397600	Weak transcription	Fetal Lung	lung
18	chr2:172386600-172397800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:172386800-172388800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:172386800-172388800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172386800-172389000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:172386800-172389000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:172386800-172397600	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:172386800-172400600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:172387000-172388800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:172387000-172388800	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:172387000-172388800	Enhancers	HSMM	muscle
28	chr2:172387000-172388800	Enhancers	HSMMtube	muscle
29	chr2:172387000-172389200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:172387200-172388800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:172387200-172397800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
33	chr2:172387400-172388800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:172387400-172389000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:172387400-172390800	Weak transcription	Ovary	ovary
36	chr2:172387400-172398000	Weak transcription	NHEK	skin
37	chr2:172387600-172388800	Enhancers	Primary hematopoietic stem cells	blood
38	chr2:172387600-172388800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:172387600-172388800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:172387800-172388800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:172387800-172388800	Flanking Active TSS	GM12878-XiMat	blood
42	chr2:172387800-172388800	Flanking Active TSS	Osteobl	bone
43	chr2:172387800-172389000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:172387800-172397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:172388000-172388800	Enhancers	Brain Angular Gyrus	brain
46	chr2:172388000-172388800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:172388000-172411400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:172388200-172388800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:172388200-172388800	Flanking Active TSS	NH-A	brain
50	chr2:172388200-172389000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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