Variant report

Variant	rs73144995
Chromosome Location	chr4:53855000-53855001
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs17082212	1.00[AMR][1000 genomes]
rs17082264	0.85[AFR][1000 genomes]
rs17082290	1.00[AMR][1000 genomes]
rs17082420	1.00[AMR][1000 genomes]
rs28817423	1.00[AMR][1000 genomes]
rs4386657	1.00[AMR][1000 genomes]
rs57223947	1.00[AMR][1000 genomes]
rs57470249	1.00[AMR][1000 genomes]
rs57632491	1.00[AMR][1000 genomes]
rs57968004	1.00[AMR][1000 genomes]
rs59033313	1.00[AMR][1000 genomes]
rs59033992	1.00[AMR][1000 genomes]
rs59945377	1.00[AMR][1000 genomes]
rs60967961	1.00[AMR][1000 genomes]
rs61689349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6815750	1.00[AMR][1000 genomes]
rs6817299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6854759	1.00[AMR][1000 genomes]
rs6855135	0.82[AFR][1000 genomes]
rs6855857	1.00[AMR][1000 genomes]
rs73141439	1.00[AMR][1000 genomes]
rs73141441	1.00[AMR][1000 genomes]
rs73141448	1.00[AMR][1000 genomes]
rs73143431	1.00[AMR][1000 genomes]
rs73143436	1.00[AMR][1000 genomes]
rs73144927	1.00[AMR][1000 genomes]
rs73144941	1.00[AMR][1000 genomes]
rs73144946	1.00[AMR][1000 genomes]
rs73149135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149168	1.00[AMR][1000 genomes]
rs73149170	1.00[AMR][1000 genomes]
rs73149171	1.00[AMR][1000 genomes]
rs7441164	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7664855	1.00[AMR][1000 genomes]
rs7674948	1.00[AMR][1000 genomes]
rs7683505	1.00[AMR][1000 genomes]
rs7693228	1.00[AMR][1000 genomes]
rs7694536	1.00[AMR][1000 genomes]
rs7696803	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696943	1.00[AMR][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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:53850400-53860000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:53850400-53864600	Weak transcription	Primary T cells from cord blood	blood
4	chr4:53850400-53869600	Weak transcription	GM12878-XiMat	blood
5	chr4:53851000-53861800	Weak transcription	NHLF	lung
6	chr4:53851000-53863200	Weak transcription	HepG2	liver
7	chr4:53851200-53861400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:53851400-53861400	Weak transcription	NHDF-Ad	bronchial
9	chr4:53851600-53855800	Weak transcription	Fetal Lung	lung
10	chr4:53851600-53857600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:53851600-53860000	Weak transcription	Fetal Stomach	stomach
12	chr4:53851600-53861400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:53852400-53860000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:53854400-53856000	Weak transcription	Ovary	ovary
15	chr4:53854400-53860000	Weak transcription	Right Atrium	heart
16	chr4:53854600-53855800	Weak transcription	Fetal Kidney	kidney
17	chr4:53854800-53855800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:53854800-53855800	Weak transcription	Fetal Heart	heart

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