Variant report

Variant	rs1984049
Chromosome Location	chr9:12916710-12916711
allele	A/C
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:15)

rs_ID	r²[population]
rs10122098	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10125252	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12338576	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708253	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13293601	0.81[EUR][1000 genomes]
rs13440240	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13440325	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1984050	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984051	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28545148	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34392930	0.95[EUR][1000 genomes]
rs35873446	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7847454	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7870401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv892574	chr9:12754969-12918226	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv613615	chr9:12830070-12947238	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12914800-12917000	Enhancers	Fetal Muscle Leg	muscle
2	chr9:12915200-12917400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:12915200-12917600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:12915400-12916800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:12915400-12917400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:12915600-12916800	Enhancers	Fetal Heart	heart
7	chr9:12915600-12917000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:12915600-12917000	Enhancers	Brain Hippocampus Middle	brain
9	chr9:12915600-12917200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:12915600-12917200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:12915600-12917200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:12915600-12917200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:12915800-12917400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr9:12915800-12917400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:12916000-12917000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:12916200-12922400	Weak transcription	Fetal Lung	lung
17	chr9:12916400-12916800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:12916400-12916800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:12916600-12916800	Weak transcription	iPS-15b 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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