Variant report

Variant	rs11060212
Chromosome Location	chr12:123310521-123310522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11060180	0.84[ASN][1000 genomes]
rs12820345	0.82[ASN][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	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11060212	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123259400-123310600	Weak transcription	HSMMtube	muscle
2	chr12:123259800-123310600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:123298000-123310600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:123299600-123310600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:123302200-123312000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:123304200-123310600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:123304200-123310600	Weak transcription	Fetal Brain Female	brain
8	chr12:123304400-123312000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:123305800-123310600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:123305800-123318800	Weak transcription	Pancreas	Pancrea
11	chr12:123306200-123310600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:123307200-123310600	Weak transcription	Fetal Brain Male	brain
13	chr12:123307600-123310600	Weak transcription	K562	blood
14	chr12:123307800-123310600	Weak transcription	Fetal Heart	heart
15	chr12:123309000-123310800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:123309000-123311000	Weak transcription	Gastric	stomach
17	chr12:123310000-123311200	Active TSS	Fetal Intestine Large	intestine
18	chr12:123310200-123311000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:123310200-123311000	Active TSS	Psoas Muscle	Psoas
20	chr12:123310200-123311000	Active TSS	HepG2	liver
21	chr12:123310200-123311200	Active TSS	Liver	Liver
22	chr12:123310200-123311400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:123310200-123311400	Active TSS	Fetal Intestine Small	intestine
24	chr12:123310200-123311400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:123310200-123311600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:123310400-123310600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr12:123310400-123310600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:123310400-123310600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr12:123310400-123310600	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr12:123310400-123310600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr12:123310400-123310600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr12:123310400-123310800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr12:123310400-123310800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr12:123310400-123310800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr12:123310400-123310800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr12:123310400-123310800	Enhancers	Primary B cells from cord blood	blood
37	chr12:123310400-123310800	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr12:123310400-123310800	Active TSS	Fetal Kidney	kidney
39	chr12:123310400-123310800	Enhancers	Placenta	Placenta
40	chr12:123310400-123310800	Active TSS	Stomach Mucosa	stomach
41	chr12:123310400-123310800	Active TSS	HUVEC	blood vessel
42	chr12:123310400-123310800	Active TSS	NHEK	skin
43	chr12:123310400-123311000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:123310400-123311000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:123310400-123311000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:123310400-123311000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:123310400-123311000	Active TSS	Colonic Mucosa	Colon
48	chr12:123310400-123311000	Active TSS	NH-A	brain
49	chr12:123310400-123311200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:123310400-123311200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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