Variant report

Variant	rs74079186
Chromosome Location	chr12:45133849-45133850
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:16)

rs_ID	r²[population]
rs11182628	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300527	0.87[AMR][1000 genomes]
rs35402068	0.83[AFR][1000 genomes]
rs58883836	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277257	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7980032	0.95[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45123400-45142400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:45127400-45134800	Weak transcription	Fetal Brain Female	brain
4	chr12:45127400-45136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:45131000-45134800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:45132800-45134400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr12:45133000-45134200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:45133600-45134000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:45133600-45134400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:45133600-45134800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45133600-45135200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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