Variant report

Variant	rs2710421
Chromosome Location	chr12:45262639-45262640
allele	C/T
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:17)

rs_ID	r²[population]
rs11182723	0.86[AMR][1000 genomes]
rs11182726	0.86[AMR][1000 genomes]
rs11182729	0.86[AMR][1000 genomes]
rs2272518	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2658949	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2658950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2658977	0.98[ASN][1000 genomes]
rs2703052	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2703056	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2703057	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2710418	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2710424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710447	0.98[ASN][1000 genomes]
rs447760	0.86[ASN][1000 genomes]
rs58724768	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61438749	0.86[AMR][1000 genomes]
rs7295338	0.89[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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45257000-45266800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:45257400-45265200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45258600-45265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45258600-45267800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:45259600-45266000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45260000-45268000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:45260200-45262800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:45260200-45263200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr12:45260400-45263000	Weak transcription	Fetal Brain Female	brain
10	chr12:45260400-45264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:45261200-45264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:45261200-45265400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45261400-45263200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr12:45262000-45267800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:45262400-45263200	Enhancers	Fetal Brain Male	brain
16	chr12:45262600-45264000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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