Variant report

Variant	rs7301727
Chromosome Location	chr12:45090434-45090435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11182615	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1450555	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1450556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1869163	0.81[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56989457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57533444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57804181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59161217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60629070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60933400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131850	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7133504	1.00[AMR][1000 genomes]
rs7134991	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295485	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954476	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954828	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957686	0.89[AMR][1000 genomes]
rs7959316	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7965285	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966932	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974610	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9739530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:22 , 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	chr12:45078800-45095600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:45081400-45115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:45081600-45106800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45081800-45103000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:45083200-45110000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:45084800-45096600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45085400-45092000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:45085400-45101000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:45085400-45105800	Weak transcription	Fetal Brain Female	brain
12	chr12:45088000-45090600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:45088000-45110800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:45088800-45093400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:45089000-45114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:45089600-45106400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:45089800-45091000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:45089800-45091600	Enhancers	Fetal Lung	lung
19	chr12:45090400-45090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:45090400-45090800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr12:45090400-45091000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr12:45090400-45091200	Enhancers	HUES48 Cell Line	embryonic stem cell

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