Variant report

Variant	rs7039570
Chromosome Location	chr9:18261699-18261700
allele	C/T
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:15)

rs_ID	r²[population]
rs10810939	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10810940	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10810941	0.84[ASN][1000 genomes]
rs10963541	0.82[ASN][1000 genomes]
rs10963545	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12684857	0.81[ASN][1000 genomes]
rs13286417	0.81[ASN][1000 genomes]
rs2383068	0.82[ASN][1000 genomes]
rs2383069	0.82[ASN][1000 genomes]
rs6475207	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7023176	0.82[ASN][1000 genomes]
rs7039917	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7852708	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7862683	0.81[ASN][1000 genomes]
rs7870639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021605	chr9:18002205-18271109	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv892680	chr9:18089614-18267185	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv892682	chr9:18166112-18272700	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18256800-18265200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:18257000-18267200	Weak transcription	NHDF-Ad	bronchial
3	chr9:18260000-18261800	Enhancers	Colon Smooth Muscle	Colon
4	chr9:18260200-18261800	Enhancers	HSMM	muscle
5	chr9:18260200-18262400	Enhancers	HMEC	breast
6	chr9:18260400-18261800	Enhancers	Fetal Stomach	stomach
7	chr9:18260800-18261800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:18261200-18261800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:18261200-18261800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:18261400-18261800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:18261400-18262200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:18261400-18262800	Weak transcription	Fetal Lung	lung
13	chr9:18261400-18266800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:18261600-18261800	Enhancers	Fetal Muscle Leg	muscle
15	chr9:18261600-18262000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:18261600-18262400	Enhancers	NHEK	skin
17	chr9:18261600-18263000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:18261600-18267400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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

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