Variant report

Variant	rs72937269
Chromosome Location	chr3:50952189-50952190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12492850	0.93[AFR][1000 genomes]
rs4688697	0.83[AFR][1000 genomes]
rs58704403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58720544	0.82[AFR][1000 genomes]
rs60204288	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60882641	0.83[AFR][1000 genomes]
rs61627377	0.83[AFR][1000 genomes]
rs72935279	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72937265	0.83[AFR][1000 genomes]
rs72937300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72939205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72942760	1.00[AMR][1000 genomes]
rs7372342	0.83[AFR][1000 genomes]
rs7426964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription 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
2	nsv1004881	chr3:50900793-51032918	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536568	chr3:50900793-51032918	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1008585	chr3:50936180-50955418	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3334402	chr3:50941380-50956775	Genic enhancers Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3492813	chr3:50943030-50957425	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
7	esv3492814	chr3:50943030-50957425	Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases
8	esv20176	chr3:50945260-50955050	Enhancers Weak transcription Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50950400-50959200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:50951200-50953000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:50951200-50954800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:50951200-50959400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:50951400-50964000	Weak transcription	H9 Cell Line	embryonic stem cell

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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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