Variant report

Variant	rs2443083
Chromosome Location	chr5:90129284-90129285
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2438378	1.00[AMR][1000 genomes]
rs2438382	1.00[AMR][1000 genomes]
rs2438383	1.00[AMR][1000 genomes]
rs2443080	1.00[AMR][1000 genomes]
rs2443081	1.00[AMR][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	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	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
6	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
7	esv3432925	chr5:90129008-90129334	Weak transcription Strong transcription	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	chr5:90103000-90140800	Weak transcription	Brain Germinal Matrix	brain
2	chr5:90104600-90142000	Weak transcription	Brain Anterior Caudate	brain
3	chr5:90110200-90149600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:90112000-90132800	Weak transcription	K562	blood
5	chr5:90112000-90151200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:90112000-90160600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
8	chr5:90112200-90142200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:90119000-90131000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:90119200-90140800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:90126000-90135400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:90126400-90131800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:90127200-90136400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:90127200-90144600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:90127800-90131200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:90127800-90131600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:90128800-90131400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

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