Variant report

Variant	rs55638273
Chromosome Location	chr12:117518786-117518787
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117517303..117519421-chr12:117527171..117531025,3	K562	blood:
2	chr12:117512300..117515026-chr12:117517081..117519367,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12313308	0.83[AMR][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:34 , 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	chr12:117515200-117518800	Weak transcription	Fetal Kidney	kidney
7	chr12:117515200-117521200	Weak transcription	Fetal Lung	lung
8	chr12:117515200-117521400	Weak transcription	Stomach Mucosa	stomach
9	chr12:117515200-117522400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:117515400-117520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:117515400-117520800	Weak transcription	Pancreas	Pancrea
13	chr12:117515400-117520800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:117515400-117523000	Weak transcription	Gastric	stomach
15	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
16	chr12:117515400-117528600	Weak transcription	K562	blood
17	chr12:117515600-117522200	Weak transcription	Right Ventricle	heart
18	chr12:117518200-117518800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:117518200-117519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:117518200-117519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:117518200-117519000	Enhancers	Fetal Heart	heart
22	chr12:117518200-117519200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:117518200-117520000	Enhancers	Fetal Thymus	thymus
24	chr12:117518400-117518800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:117518400-117518800	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:117518400-117519000	Enhancers	Dnd41	blood
27	chr12:117518400-117519200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:117518600-117518800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117518600-117519000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:117518600-117519000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:117518600-117519000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:117518600-117519000	Enhancers	Left Ventricle	heart
33	chr12:117518600-117519000	Enhancers	Thymus	Thymus
34	chr12:117518600-117519000	Genic enhancers	HepG2	liver

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