Variant report

Variant	rs73279517
Chromosome Location	chr7:21188129-21188130
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11762716	0.84[ASN][1000 genomes]
rs11983897	0.87[AFR][1000 genomes]
rs12534802	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17143942	0.80[AFR][1000 genomes]
rs17737414	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2215676	0.96[ASN][1000 genomes]
rs28676411	0.85[ASN][1000 genomes]
rs58270876	0.83[AFR][1000 genomes]
rs60656967	0.80[AFR][1000 genomes]
rs61520146	0.80[AFR][1000 genomes]
rs6947983	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7457110	0.85[EUR][1000 genomes]
rs978032	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830920	chr7:21014535-21201580	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21186600-21200200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:21186800-21189200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:21186800-21189200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:21187000-21189200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:21187000-21189200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:21187000-21189400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:21187000-21189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:21188000-21188200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	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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