Variant report

Variant	rs2179425
Chromosome Location	chr1:172919080-172919081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172913673..172916975-chr1:172918949..172922757,3	K562	blood:
2	chr1:172909514..172913371-chr1:172916147..172919223,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489274	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798242	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10798243	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10912497	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10912499	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10912501	0.82[EUR][1000 genomes]
rs12035082	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12037203	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12037606	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12088638	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12402215	0.82[EUR][1000 genomes]
rs12407389	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12410129	0.81[EUR][1000 genomes]
rs12565596	0.81[EUR][1000 genomes]
rs1894636	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2206364	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206365	0.82[EUR][1000 genomes]
rs2206366	0.81[EUR][1000 genomes]
rs2213746	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2422260	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4145469	0.94[EUR][1000 genomes]
rs4916199	0.95[EUR][1000 genomes]
rs4916286	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4916289	0.82[EUR][1000 genomes]
rs4916290	0.82[EUR][1000 genomes]
rs6425189	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6674470	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688532	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7517726	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7539319	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539951	0.82[EUR][1000 genomes]
rs926472	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs926473	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs926474	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9283384	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172913600-172919200	Enhancers	HUVEC	blood vessel
2	chr1:172915200-172924600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:172917000-172921800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:172917800-172921200	Weak transcription	Fetal Stomach	stomach
5	chr1:172918000-172921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:172918000-172923000	Weak transcription	HSMMtube	muscle
7	chr1:172918000-172929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:172918400-172919800	Weak transcription	NHLF	lung
9	chr1:172918400-172920400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:172918400-172920400	Weak transcription	HMEC	breast
11	chr1:172918400-172920400	Weak transcription	NHEK	skin
12	chr1:172918400-172920800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:172918400-172920800	Weak transcription	Osteobl	bone
14	chr1:172918600-172920000	Weak transcription	Fetal Lung	lung
15	chr1:172918600-172920600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:172918600-172924200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:172918800-172919800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:172918800-172920400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:172918800-172920600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:172918800-172920800	Weak transcription	HSMM	muscle
21	chr1:172918800-172920800	Weak transcription	NHDF-Ad	bronchial
22	chr1:172919000-172923000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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