Variant report

Variant	rs12312116
Chromosome Location	chr12:45175103-45175104
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:7)

rs_ID	r²[population]
rs10128943	1.00[AMR][1000 genomes]
rs11182663	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182691	1.00[AMR][1000 genomes]
rs12315309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319039	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7973832	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9971819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45151800-45209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45153600-45185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:45157000-45205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45165800-45177800	Weak transcription	Brain Anterior Caudate	brain
5	chr12:45166000-45177600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:45166200-45177800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:45168200-45189000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:45168600-45177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:45169200-45176400	Weak transcription	Fetal Brain Male	brain
10	chr12:45170200-45176000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:45171200-45177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:45173200-45210200	Weak transcription	Fetal Brain Female	brain
13	chr12:45173800-45175200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:45174000-45178800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:45174600-45205600	Weak transcription	Primary T cells fromperipheralblood	blood

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Input of quick search could be:

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

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