Variant report

Variant	rs12468173
Chromosome Location	chr2:72899576-72899577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1032982	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11676555	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11677707	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11679683	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11685114	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12468179	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12617074	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12996319	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006497	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1446887	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446896	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1508061	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1911690	0.91[EUR][1000 genomes]
rs2063170	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852294	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852883	0.87[EUR][1000 genomes]
rs4852886	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4852888	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4852889	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4852890	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4852891	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6546781	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6708156	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6724529	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7588400	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7600273	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][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	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874265	chr2:72789764-72982609	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72858400-72904000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:72866800-72902600	Weak transcription	Left Ventricle	heart
3	chr2:72873000-72903800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:72892000-72905400	Weak transcription	Pancreas	Pancrea
5	chr2:72892400-72900400	Weak transcription	Ovary	ovary
6	chr2:72895400-72902600	Weak transcription	Fetal Lung	lung
7	chr2:72895800-72900400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:72895800-72901200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:72895800-72903400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:72896000-72905400	Weak transcription	Psoas Muscle	Psoas
11	chr2:72896800-72903800	Weak transcription	NHEK	skin
12	chr2:72896800-72943000	Weak transcription	Primary T cells from cord blood	blood
13	chr2:72897000-72900400	Weak transcription	Osteobl	bone
14	chr2:72897000-72903400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:72897000-72903400	Weak transcription	NHDF-Ad	bronchial
16	chr2:72897000-72904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:72897000-72905200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:72897000-72912600	Weak transcription	NHLF	lung
19	chr2:72897200-72902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:72897800-72909800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:72899200-72899800	Enhancers	A549	lung
22	chr2:72899400-72903400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:72899400-72905400	Weak transcription	Right Ventricle	heart

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