Variant report

Variant	rs2468393
Chromosome Location	chr2:173687713-173687714
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12693013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1559626	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2081405	0.94[AFR][1000 genomes]
rs2247800	0.84[AFR][1000 genomes]
rs2357950	0.89[AMR][1000 genomes]
rs2432927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553000	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553002	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553003	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2676509	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2676513	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728322	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6728688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585729	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173676000-173693400	Weak transcription	Fetal Heart	heart
2	chr2:173679200-173693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:173679200-173708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:173686000-173687800	Active TSS	Left Ventricle	heart
5	chr2:173686000-173688000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:173686000-173688400	Enhancers	Fetal Thymus	thymus
7	chr2:173686000-173688600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:173686400-173687800	Active TSS	Right Atrium	heart
9	chr2:173686400-173688200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr2:173686400-173690200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:173686600-173687800	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:173686600-173688400	Active TSS	Brain Anterior Caudate	brain
13	chr2:173686600-173689200	Active TSS	Lung	lung
14	chr2:173686600-173690800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:173686800-173687800	Active TSS	Brain Angular Gyrus	brain
16	chr2:173686800-173687800	Active TSS	Brain Cingulate Gyrus	brain
17	chr2:173686800-173689200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:173686800-173693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:173687000-173688800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:173687400-173688200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:173687600-173688000	Enhancers	Adipose Nuclei	Adipose
22	chr2:173687600-173688000	Enhancers	HUVEC	blood vessel
23	chr2:173687600-173688400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:173687600-173688600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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