Variant report

Variant	rs61464392
Chromosome Location	chr12:45105521-45105522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1376128	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1377000	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55815562	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55876404	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57006455	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58229687	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59701515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60346357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60804250	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61142114	0.81[AFR][1000 genomes]
rs61323848	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577923	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276096	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276098	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284095	1.00[AMR][1000 genomes]
rs73287723	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079148	1.00[AFR][1000 genomes];1.00[AMR][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:19 , 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	chr12:45081600-45106800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45083200-45110000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:45085400-45105800	Weak transcription	Fetal Brain Female	brain
7	chr12:45088000-45110800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:45089000-45114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:45089600-45106400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:45090600-45110200	Weak transcription	Brain Germinal Matrix	brain
11	chr12:45091200-45110800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:45101200-45114000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:45102200-45105800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:45104600-45109200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:45105200-45107200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:45105200-45107200	Weak transcription	Adipose Nuclei	Adipose
17	chr12:45105200-45117000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:45105400-45105600	Flanking Active TSS	Fetal Brain Male	brain
19	chr12:45105400-45111000	Weak transcription	Primary T killer naive cells fromperipheralblood	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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