Variant report

Variant	rs74146373
Chromosome Location	chr1:224717972-224717973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16849164	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58444825	1.00[EUR][1000 genomes]
rs61509136	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6689059	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73121832	1.00[EUR][1000 genomes]
rs73131693	1.00[EUR][1000 genomes]
rs73131696	1.00[EUR][1000 genomes]
rs73131698	1.00[EUR][1000 genomes]
rs73133316	1.00[EUR][1000 genomes]
rs73133326	0.87[AMR][1000 genomes]
rs73133329	0.83[AFR][1000 genomes]
rs74146370	0.92[AFR][1000 genomes];0.89[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:224711200-224720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
4	chr1:224713400-224721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:224716200-224718000	Enhancers	HUVEC	blood vessel
6	chr1:224716400-224718000	Enhancers	HMEC	breast
7	chr1:224716400-224718000	Enhancers	NHLF	lung
8	chr1:224716400-224718200	Enhancers	HSMM	muscle
9	chr1:224716600-224718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:224716600-224718000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:224716600-224718000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:224716600-224718000	Enhancers	Pancreas	Pancrea
13	chr1:224717000-224718800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:224717600-224719000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224717600-224727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:224717800-224718000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:224717800-224723400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:224717800-224726000	Weak transcription	Dnd41	blood
19	chr1:224717800-224727200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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