Variant report

Variant	rs72984150
Chromosome Location	chr3:139810972-139810973
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10513099	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2280336	0.90[EUR][1000 genomes]
rs2882425	0.82[EUR][1000 genomes]
rs4462908	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4600787	0.90[EUR][1000 genomes]
rs58656999	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60260333	0.92[EUR][1000 genomes]
rs60313064	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72984144	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72984173	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72984176	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7619286	0.90[EUR][1000 genomes]
rs7624316	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv829738	chr3:139670836-139851945	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv877545	chr3:139738645-139821310	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv829739	chr3:139797496-140002685	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139809200-139811600	Enhancers	HSMMtube	muscle
2	chr3:139809400-139813400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:139810000-139811000	Enhancers	Adipose Nuclei	Adipose
4	chr3:139810000-139813800	Enhancers	Fetal Muscle Leg	muscle
5	chr3:139810000-139814600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:139810200-139811600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:139810200-139811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:139810200-139812200	Weak transcription	Left Ventricle	heart
9	chr3:139810200-139812200	Weak transcription	Right Atrium	heart
10	chr3:139810200-139812400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:139810400-139812000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:139810400-139812200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:139810400-139812400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:139810400-139813000	Weak transcription	Ovary	ovary
15	chr3:139810600-139811400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:139810600-139812000	Weak transcription	HSMM	muscle
17	chr3:139810600-139812200	Weak transcription	HMEC	breast

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

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