Variant report

Variant	rs2438364
Chromosome Location	chr5:90091816-90091817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12519770	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13188479	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244356	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2438352	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2438355	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2438362	0.99[ASN][1000 genomes]
rs2438368	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443079	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2443085	0.85[ASN][1000 genomes]
rs2443091	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2460167	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7720206	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv531965	chr5:89886550-90145002	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv934323	chr5:89968158-90111853	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1031718	chr5:89999033-90099868	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	nsv968840	chr5:90089029-90097179	Enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90051800-90105000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:90086200-90092200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:90088600-90092200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr5:90089200-90092400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:90089400-90092000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:90089800-90092400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:90089800-90092600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:90090000-90092200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr5:90090200-90092400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90090600-90092000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:90090600-90092000	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr5:90090800-90101200	Weak transcription	K562	blood
13	chr5:90090800-90104400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:90091000-90092000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:90091800-90092200	Weak transcription	Fetal Brain Female	brain
16	chr5:90091800-90092400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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