Variant report

Variant	rs73278114
Chromosome Location	chr12:45111722-45111723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11182653	0.96[EUR][1000 genomes]
rs17574492	0.93[EUR][1000 genomes]
rs17575480	0.96[EUR][1000 genomes]
rs17651646	0.90[EUR][1000 genomes]
rs17652715	0.93[EUR][1000 genomes]
rs17653092	1.00[EUR][1000 genomes]
rs17653542	0.96[EUR][1000 genomes]
rs2408044	0.97[EUR][1000 genomes]
rs4768570	0.96[EUR][1000 genomes]
rs7296595	0.90[EUR][1000 genomes]
rs7955981	0.93[EUR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45065000-45116000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:45081400-45115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45089000-45114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:45101200-45114000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45105200-45117000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45110000-45111800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45110200-45111800	Enhancers	Brain Germinal Matrix	brain
9	chr12:45110600-45111800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:45110600-45111800	Enhancers	Fetal Brain Male	brain
11	chr12:45110600-45112800	Enhancers	Fetal Brain Female	brain
12	chr12:45110800-45111800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:45110800-45111800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:45111000-45114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:45111200-45113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:45111400-45111800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:45111400-45111800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:45111600-45111800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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