Variant report

Variant	rs72992127
Chromosome Location	chr3:143084272-143084273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10513199	1.00[AMR][1000 genomes]
rs11925776	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853508	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853527	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853529	1.00[AMR][1000 genomes]
rs34043464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57334336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57687610	1.00[AMR][1000 genomes]
rs58810476	1.00[AMR][1000 genomes]
rs72992119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992135	0.86[AFR][1000 genomes]
rs72992177	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992193	1.00[AMR][1000 genomes]
rs72992195	1.00[AMR][1000 genomes]
rs72992201	1.00[AMR][1000 genomes]
rs7610768	1.00[AMR][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv877564	chr3:143059952-143116883	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877565	chr3:143078986-143116883	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143068200-143091800	Weak transcription	Lung	lung
2	chr3:143070200-143088600	Weak transcription	Aorta	Aorta
3	chr3:143071600-143102400	Weak transcription	Esophagus	oesophagus
4	chr3:143072000-143099400	Weak transcription	Ovary	ovary
5	chr3:143073400-143089600	Weak transcription	Psoas Muscle	Psoas
6	chr3:143077400-143104800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:143082200-143086400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:143082400-143084400	Weak transcription	K562	blood
9	chr3:143082400-143102200	Weak transcription	Primary B cells from cord blood	blood
10	chr3:143083000-143084600	Enhancers	Dnd41	blood
11	chr3:143083000-143096600	Weak transcription	Primary T cells from cord blood	blood
12	chr3:143083200-143096000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:143083400-143085600	Weak transcription	Fetal Thymus	thymus
14	chr3:143083400-143087200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:143083400-143098000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:143083600-143085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:143083800-143085600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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