Variant report

Variant	rs72740302
Chromosome Location	chr1:193337044-193337045
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12116651	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12117877	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12130838	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12133955	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12137353	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12140787	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12141455	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17528639	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17529089	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17593120	0.80[EUR][1000 genomes]
rs17601491	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs528790	0.80[EUR][1000 genomes]
rs72740270	0.80[EUR][1000 genomes]
rs72742104	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72742110	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742114	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742119	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72742120	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs817137	0.80[EUR][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	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1004003	chr1:193322299-193477254	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv535253	chr1:193322299-193477254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3451387	chr1:193335344-193362618	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193326400-193353000	Weak transcription	Fetal Lung	lung
2	chr1:193332800-193338600	Weak transcription	Aorta	Aorta
3	chr1:193336200-193337200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:193336800-193337200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:193336800-193337200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:193336800-193337200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:193336800-193337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:193337000-193337200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:193337000-193337200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:193337000-193337600	Active TSS	Brain Angular Gyrus	brain
11	chr1:193337000-193337800	Weak transcription	Small Intestine	intestine
12	chr1:193337000-193338000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:193337000-193338000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr1:193337000-193338000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:193337000-193338200	Enhancers	Stomach Mucosa	stomach

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

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