Variant report

Variant	rs1888721
Chromosome Location	chr9:71283705-71283706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11143313	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1333339	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9695013	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[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	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr9:71282000-71286400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr9:71282000-71286600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:71282200-71284000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:71282200-71285000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr9:71282200-71286400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:71282400-71284000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:71282400-71284800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr9:71282400-71286400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:71282400-71286400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:71282600-71284600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr9:71282800-71284200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71283000-71284400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:71283000-71289400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:71283200-71284600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:71283200-71285800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:71283400-71284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:71283400-71285800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr9:71283600-71284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:71283600-71287200	Weak transcription	Fetal Heart	heart

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

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