Variant report

Variant	rs72998571
Chromosome Location	chr1:76740692-76740693
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2035611	1.00[AMR][1000 genomes]
rs4353143	1.00[AMR][1000 genomes]
rs57964070	1.00[AFR][1000 genomes]
rs58266418	1.00[AMR][1000 genomes]
rs72998539	1.00[AMR][1000 genomes]
rs72998547	1.00[AMR][1000 genomes]
rs72998553	1.00[AMR][1000 genomes]
rs72998579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72998597	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73000416	1.00[AMR][1000 genomes]
rs73000483	1.00[AMR][1000 genomes]
rs73002405	1.00[AMR][1000 genomes]
rs73002412	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73002414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004241	1.00[AMR][1000 genomes]
rs73006152	1.00[AMR][1000 genomes]
rs73006167	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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1499	chr1:76704981-76749688	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76727400-76744800	Weak transcription	Aorta	Aorta
2	chr1:76735000-76743400	Weak transcription	Fetal Kidney	kidney
3	chr1:76735200-76744600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:76735200-76745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76735400-76744200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:76735600-76750600	Weak transcription	Left Ventricle	heart
7	chr1:76736400-76744400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:76736600-76745000	Weak transcription	Right Atrium	heart
9	chr1:76739600-76749200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:76740000-76740800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:76740000-76741400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:76740200-76740800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:76740200-76741000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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