Variant report

Variant	rs10793039
Chromosome Location	chr11:72449249-72449250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72448798..72451233-chr11:72455222..72456759,2	MCF-7	breast:
2	chr11:72440158..72444613-chr11:72446790..72449763,6	K562	blood:
3	chr11:72448978..72451899-chr11:72489882..72492587,2	MCF-7	breast:
4	chr11:72441893..72446112-chr11:72446324..72449396,4	K562	blood:
5	chr11:72447811..72450811-chr11:72484207..72487394,3	K562	blood:
6	chr11:72447938..72450287-chr11:72485323..72487919,3	K562	blood:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10793040	0.82[CHD][hapmap]
rs2365439	0.84[CHD][hapmap]
rs7110801	0.82[CHD][hapmap]

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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10793039	PDE2A	cis	parietal	SCAN
rs10793039	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72433600-72452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:72434000-72452200	Weak transcription	Small Intestine	intestine
3	chr11:72435600-72449600	Weak transcription	Pancreas	Pancrea
4	chr11:72446000-72453400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:72446200-72455400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr11:72446600-72449400	Enhancers	Lung	lung
7	chr11:72446600-72449400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr11:72446600-72449800	Enhancers	HMEC	breast
9	chr11:72446600-72450000	Enhancers	NH-A	brain
10	chr11:72446600-72451200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:72446600-72451400	Enhancers	NHDF-Ad	bronchial
12	chr11:72446600-72453200	Enhancers	Osteobl	bone
13	chr11:72446600-72454000	Enhancers	Placenta	Placenta
14	chr11:72446600-72454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr11:72446600-72458000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:72446800-72449400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:72446800-72449800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:72446800-72449800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:72446800-72450600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:72446800-72456000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr11:72446800-72456200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr11:72446800-72459200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr11:72447000-72449400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:72447000-72449800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:72447000-72451400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr11:72447000-72453800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:72447200-72449600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:72447400-72459000	Enhancers	Brain Hippocampus Middle	brain
29	chr11:72447600-72449600	Enhancers	Right Ventricle	heart
30	chr11:72447600-72451200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:72447600-72454200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr11:72447600-72454400	Enhancers	Brain Substantia Nigra	brain
33	chr11:72447800-72449400	Weak transcription	Gastric	stomach
34	chr11:72447800-72449600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:72447800-72450000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:72447800-72450800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:72447800-72451600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:72447800-72451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:72447800-72451800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:72447800-72452200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:72448000-72449400	Strong transcription	Fetal Intestine Small	intestine
42	chr11:72448000-72449600	Enhancers	HSMM	muscle
43	chr11:72448000-72449800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr11:72448000-72451200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:72448000-72451400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:72448000-72451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:72448000-72452200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr11:72448000-72452600	Weak transcription	Fetal Lung	lung
49	chr11:72448200-72449600	Weak transcription	Fetal Stomach	stomach
50	chr11:72448200-72450400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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