Variant report

Variant	rs12173258
Chromosome Location	chr5:90262194-90262195
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10051346	0.80[EUR][1000 genomes]
rs10079045	0.80[EUR][1000 genomes]
rs11957689	0.80[EUR][1000 genomes]
rs12523056	0.88[EUR][1000 genomes]
rs12523094	0.92[EUR][1000 genomes]
rs6865267	0.80[EUR][1000 genomes]
rs6871542	0.80[EUR][1000 genomes]
rs6879563	0.80[EUR][1000 genomes]
rs6884254	0.80[EUR][1000 genomes]
rs6896506	0.80[EUR][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	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
2	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
3	nsv462247	chr5:90249900-90298632	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv598928	chr5:90249900-90298632	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598929	chr5:90258584-90302117	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv598930	chr5:90258584-90303764	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv598931	chr5:90258584-90307152	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90230400-90265200	Weak transcription	K562	blood
2	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:90253000-90265200	Weak transcription	Fetal Brain Female	brain
4	chr5:90257800-90264200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:90258200-90262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:90258200-90263600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:90260000-90265000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:90260200-90264400	Enhancers	Hela-S3	cervix
9	chr5:90260800-90264400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:90261000-90262200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:90261400-90262600	Weak transcription	HUVEC	blood vessel
12	chr5:90261400-90262800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:90261400-90263800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:90261400-90264800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90262000-90262800	Strong transcription	H1 Cell Line	embryonic stem cell

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

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