Variant report

Variant	rs73397139
Chromosome Location	chr12:106483997-106483998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr12:106483571-106485660	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
NUAK1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17038107	0.85[EUR][1000 genomes]
rs17038111	0.88[AMR][1000 genomes]
rs58652455	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs73397141	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73397143	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:106469000-106490200	Weak transcription	Gastric	stomach
5	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:106474600-106484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:106475800-106484200	Weak transcription	Hela-S3	cervix
8	chr12:106477000-106484400	Weak transcription	Lung	lung
9	chr12:106477000-106487200	Weak transcription	HepG2	liver
10	chr12:106477600-106492200	Weak transcription	Fetal Brain Female	brain
11	chr12:106477800-106484400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:106478400-106485800	Enhancers	Brain Hippocampus Middle	brain
13	chr12:106478400-106488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:106478400-106491600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:106478600-106492400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:106478800-106487200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:106478800-106491000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:106479000-106489000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:106479000-106490600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:106479200-106487200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:106479200-106490800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:106479200-106490800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:106479200-106491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:106479400-106487200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:106479400-106488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:106479400-106490800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:106479800-106484000	Weak transcription	Fetal Stomach	stomach
28	chr12:106479800-106487000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:106480400-106485000	Genic enhancers	A549	lung
30	chr12:106480600-106484400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:106480600-106485600	Enhancers	Right Atrium	heart
32	chr12:106480800-106485600	Enhancers	Brain Angular Gyrus	brain
33	chr12:106480800-106485600	Enhancers	Brain Anterior Caudate	brain
34	chr12:106481000-106484800	Weak transcription	Pancreas	Pancrea
35	chr12:106481000-106485800	Enhancers	Brain Substantia Nigra	brain
36	chr12:106481000-106493000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:106481200-106485400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:106481600-106484800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:106481600-106486200	Enhancers	Stomach Smooth Muscle	stomach
40	chr12:106481800-106484000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:106481800-106485800	Enhancers	Ovary	ovary
42	chr12:106482000-106485000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:106482000-106485600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:106482000-106489400	Enhancers	Brain Cingulate Gyrus	brain
45	chr12:106482200-106485600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:106482400-106484400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:106482400-106485600	Enhancers	Adipose Nuclei	Adipose
48	chr12:106482400-106485600	Enhancers	Right Ventricle	heart
49	chr12:106482400-106485800	Enhancers	Colon Smooth Muscle	Colon
50	chr12:106482400-106485800	Genic enhancers	HSMMtube	muscle

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