Variant report

Variant	rs73399125
Chromosome Location	chr12:106534519-106534520
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:106532438-106534843	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr12:106534425-106534559	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:106532466-106535617	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:106532140-106535742	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr12:106534369-106534584	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr12:106534041-106534593	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr12:106531185-106534704	A549	lung:	n/a	chr12:106531741-106531751 chr12:106533469-106533479 chr12:106531574-106531583
8	POLR2A	chr12:106534509-106534535	ProgFib	skin:	n/a	n/a
9	POLR2A	chr12:106531178-106535803	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:106534385-106534567	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:106532136-106534653	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:106534103-106534715	PANC-1	pancreas:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105848600..105850888-chr12:106533962..106536336,2	MCF-7	breast:
2	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
3	chr12:106531582..106534564-chr12:106638638..106642825,4	MCF-7	breast:
4	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
5	chr12:106501658..106504096-chr12:106533862..106535852,2	MCF-7	breast:
6	chr12:106534451..106537070-chr12:106581248..106583700,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-4	chr12:106533813-106535694	NONHSAT030466

No data

Variant related genes	Relation type
NUAK1	TF binding region
ENSG00000136026	Chromatin interaction
ENSG00000258355	Chromatin interaction
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11112853	1.00[AMR][1000 genomes]
rs11837255	1.00[AMR][1000 genomes]
rs12315295	1.00[AMR][1000 genomes]
rs12320170	1.00[AMR][1000 genomes]
rs28560466	1.00[AMR][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	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3441307	chr12:106531647-106534695	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3400925	chr12:106531722-106534570	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106529200-106534600	Active TSS	Aorta	Aorta
2	chr12:106529200-106535000	Active TSS	Left Ventricle	heart
3	chr12:106529600-106535000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:106530000-106534800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:106530000-106534800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:106530600-106534600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
7	chr12:106530800-106535600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:106531400-106534800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:106532000-106535400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:106532200-106534600	Active TSS	Fetal Intestine Small	intestine
11	chr12:106532600-106534600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:106533400-106534600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:106533400-106534600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:106533400-106534600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:106533400-106534600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr12:106533600-106534800	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr12:106533600-106535000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:106533600-106535000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr12:106533600-106535400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:106533600-106535600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:106533600-106535600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:106533800-106534600	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr12:106533800-106534600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr12:106533800-106534800	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr12:106533800-106535000	Transcr. at gene 5' and 3'	Fetal Lung	lung
26	chr12:106533800-106535200	Flanking Active TSS	HUVEC	blood vessel
27	chr12:106533800-106541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:106534000-106534600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:106534000-106534600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:106534000-106534600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:106534000-106534600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:106534000-106534600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
33	chr12:106534000-106534600	Flanking Active TSS	Ovary	ovary
34	chr12:106534000-106534600	Flanking Active TSS	Pancreas	Pancrea
35	chr12:106534000-106534600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr12:106534000-106534600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
37	chr12:106534000-106534600	Flanking Active TSS	Right Atrium	heart
38	chr12:106534000-106534600	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr12:106534000-106534600	Flanking Active TSS	A549	lung
40	chr12:106534000-106534600	Flanking Active TSS	NH-A	brain
41	chr12:106534000-106534600	Flanking Active TSS	NHLF	lung
42	chr12:106534000-106534800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:106534000-106534800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:106534000-106534800	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr12:106534000-106534800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:106534000-106534800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr12:106534000-106535000	Flanking Active TSS	HSMMtube	muscle
48	chr12:106534000-106535200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:106534000-106535200	Flanking Active TSS	Fetal Brain Male	brain
50	chr12:106534000-106535400	Flanking Active TSS	Brain Germinal Matrix	brain

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