Variant report

Variant	rs2973123
Chromosome Location	chr5:37842676-37842677
allele	G/T
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:14)

rs_ID	r²[population]
rs1423429	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423451	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981844	1.00[ASN][1000 genomes]
rs2910693	0.99[ASN][1000 genomes]
rs2910695	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2910696	1.00[ASN][1000 genomes]
rs2910748	0.92[EUR][1000 genomes]
rs2910756	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2910761	0.87[ASN][1000 genomes]
rs2910762	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973033	0.98[ASN][1000 genomes]
rs2973041	0.86[EUR][1000 genomes]
rs2973113	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973116	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37841000-37850400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:37841200-37842800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:37841200-37848000	Weak transcription	Psoas Muscle	Psoas
4	chr5:37841400-37848000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:37841600-37846800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:37841600-37847000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:37841600-37847600	Weak transcription	HMEC	breast
8	chr5:37841800-37844200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:37841800-37846600	Weak transcription	NHEK	skin
10	chr5:37842000-37842800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr5:37842400-37842800	Bivalent Enhancer	Fetal Kidney	kidney
12	chr5:37842600-37842800	Bivalent Enhancer	Fetal Stomach	stomach
13	chr5:37842600-37842800	Enhancers	Ovary	ovary
14	chr5:37842600-37848000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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Input of quick search could be:

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

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