Variant report

Variant	rs12578121
Chromosome Location	chr12:26379532-26379533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1009766	0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs7969850	0.84[CHD][hapmap]

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	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv1840338	chr12:26367307-26390319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12578121	C12orf11	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26359200-26379600	Weak transcription	Aorta	Aorta
2	chr12:26366600-26390600	Weak transcription	HSMMtube	muscle
3	chr12:26377800-26379600	Weak transcription	NHLF	lung
4	chr12:26378800-26379600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:26379000-26379600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:26379000-26379600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:26379000-26379600	Flanking Active TSS	Brain Cingulate Gyrus	brain
8	chr12:26379000-26380200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr12:26379000-26380200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:26379000-26380400	Enhancers	Fetal Heart	heart
11	chr12:26379200-26379600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:26379200-26379600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:26379200-26379600	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr12:26379200-26379600	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr12:26379200-26379800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:26379200-26379800	Enhancers	Lung	lung
17	chr12:26379200-26379800	Flanking Active TSS	NHEK	skin
18	chr12:26379200-26380000	Bivalent Enhancer	Fetal Brain Male	brain
19	chr12:26379200-26380200	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:26379200-26380200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:26379200-26380400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:26379200-26380600	Active TSS	Brain Angular Gyrus	brain
23	chr12:26379200-26380600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:26379200-26380600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr12:26379400-26379600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:26379400-26379600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:26379400-26379600	Bivalent Enhancer	Primary B cells from cord blood	blood
28	chr12:26379400-26379600	Active TSS	Primary hematopoietic stem cells	blood
29	chr12:26379400-26379600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:26379400-26379600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:26379400-26379600	Bivalent Enhancer	Liver	Liver
32	chr12:26379400-26379600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr12:26379400-26379600	Enhancers	Esophagus	oesophagus
34	chr12:26379400-26379600	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr12:26379400-26379600	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr12:26379400-26379600	Bivalent Enhancer	Fetal Thymus	thymus
37	chr12:26379400-26379600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr12:26379400-26379600	Active TSS	Rectal Smooth Muscle	rectum
39	chr12:26379400-26379600	Active TSS	Right Atrium	heart
40	chr12:26379400-26379600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr12:26379400-26379800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:26379400-26379800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:26379400-26379800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:26379400-26379800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:26379400-26379800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:26379400-26379800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:26379400-26379800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
48	chr12:26379400-26379800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
49	chr12:26379400-26379800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr12:26379400-26379800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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