Variant report

Variant	rs12298209
Chromosome Location	chr12:117519896-117519897
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12304249	0.87[AFR][1000 genomes]
rs12311213	0.84[AFR][1000 genomes]
rs12312581	0.87[AFR][1000 genomes]
rs12317406	0.84[AFR][1000 genomes]
rs12320443	0.91[AFR][1000 genomes]
rs7358631	0.81[AFR][1000 genomes]
rs7955319	0.81[AFR][1000 genomes]
rs7960239	0.84[AFR][1000 genomes]
rs7963339	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:117508600-117520200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:117509800-117521000	Weak transcription	A549	lung
5	chr12:117515000-117524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:117515200-117521200	Weak transcription	Fetal Lung	lung
7	chr12:117515200-117521400	Weak transcription	Stomach Mucosa	stomach
8	chr12:117515200-117522400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
10	chr12:117515400-117520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:117515400-117520800	Weak transcription	Pancreas	Pancrea
12	chr12:117515400-117520800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:117515400-117523000	Weak transcription	Gastric	stomach
14	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
15	chr12:117515400-117528600	Weak transcription	K562	blood
16	chr12:117515600-117522200	Weak transcription	Right Ventricle	heart
17	chr12:117518200-117520000	Enhancers	Fetal Thymus	thymus
18	chr12:117518800-117521000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:117518800-117522400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:117519000-117520200	Weak transcription	Fetal Heart	heart
21	chr12:117519000-117521000	Weak transcription	HepG2	liver
22	chr12:117519000-117522200	Weak transcription	Left Ventricle	heart
23	chr12:117519200-117521000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:117519200-117522200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:117519800-117521000	Enhancers	Dnd41	blood

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