Variant report

Variant	rs12426443
Chromosome Location	chr12:106536165-106536166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:106535831-106536330	PANC-1	pancreas:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106536151-106536201	PANC-1	pancreas:	n/a
2	chr12:106536151-106536201	AG09309	skin:	n/a
3	chr12:106536151-106536201	A549	lung:	n/a
4	chr12:106536151-106536201	GM19239	blood:	n/a
5	chr12:106536151-106536201	HMEC	breast:	n/a
6	chr12:106536151-106536201	ovcar-3	ovarian:	n/a
7	chr12:106536151-106536201	HCPEpiC	choroid plexus:	n/a
8	chr12:106536151-106536201	HRCEpiC	kidney:	n/a
9	chr12:106536151-106536201	HCF	heart:	n/a
10	chr12:106536151-106536201	Hela-S3	cervix:	n/a
11	chr12:106536151-106536201	HEK293	kidney:	embryo
12	chr12:106536151-106536201	AoSMC	blood vessel:	n/a
13	chr12:106536151-106536201	PFSK-1	brain:	n/a
14	chr12:106536151-106536201	LNCaP	prostate:	n/a
15	chr12:106536151-106536201	U87	brain:	n/a
16	chr12:106536151-106536201	MCF10A-Er-Src	breast:	n/a
17	chr12:106536151-106536201	NH-A	brain:	n/a
18	chr12:106536151-106536201	GM12878	blood:	n/a
19	chr12:106536151-106536201	AG09319	gingival:	n/a
20	chr12:106536151-106536201	BE2_C	brain:	n/a
21	chr12:106536151-106536201	H1-hESC	embryonic stem cell:	embryo
22	chr12:106536151-106536201	HIPEpiC	eye:	n/a
23	chr12:106536151-106536201	NT2-D1	testis:	n/a
24	chr12:106536151-106536201	PrEC	prostate:	n/a
25	chr12:106536151-106536201	HRE	kidney:	n/a
26	chr12:106536151-106536201	HNPCEpiC	eye:	n/a
27	chr12:106536151-106536201	SK-N-SH	brain:	n/a
28	chr12:106536151-106536201	NHDF-neo	bronchial:	n/a
29	chr12:106536151-106536201	K562	blood:	n/a
30	chr12:106536151-106536201	HCM	heart:	n/a
31	chr12:106536151-106536201	GM12891	blood:	n/a
32	chr12:106536151-106536201	SAEC	small airway:	n/a
33	chr12:106536151-106536201	BJ	skin:	n/a
34	chr12:106536151-106536201	HEEpiC	esophagus:	n/a
35	chr12:106536151-106536201	AG10803	skin:	n/a
36	chr12:106536151-106536201	ECC-1	luminal epithelium:	n/a
37	chr12:106536151-106536201	GM06990	blood:	n/a
38	chr12:106536151-106536201	SK-N-SH_RA	brain:	n/a
39	chr12:106536151-106536201	HCT-116	colon:	n/a
40	chr12:106536151-106536201	T-47D	breast:	n/a
41	chr12:106536151-106536201	Hepatocyte	liver:	n/a
42	chr12:106536151-106536201	SKMC	muscle:	n/a
43	chr12:106536151-106536201	Jurkat	blood:	n/a
44	chr12:106536151-106536201	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:106536151-106536201	IMR90	lung:	fetal
46	chr12:106536151-106536201	CMK	blood:	n/a
47	chr12:106536151-106536201	MCF-7	breast:	n/a
48	chr12:106536151-106536201	HUVEC	blood vessel:	n/a
49	chr12:106536151-106536201	Caco-2	colon:	n/a
50	chr12:106536151-106536201	SK-N-MC	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105848600..105850888-chr12:106533962..106536336,2	MCF-7	breast:
2	chr12:106166809..106169748-chr12:106534661..106536595,2	MCF-7	breast:
3	chr12:106534451..106537070-chr12:106581248..106583700,2	MCF-7	breast:
4	chr12:106529676..106534447-chr12:106536082..106538981,4	K562	blood:
5	chr12:106208126..106209890-chr12:106535652..106537483,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-4	chr12:106536087-106537368	NONHSAT030466

No data

Variant related genes	Relation type
NUAK1	TF binding region
NUAK1	CpG island
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12427390	1.00[AMR][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	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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106533800-106541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:106534600-106536200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:106534600-106536200	Enhancers	Pancreas	Pancrea
4	chr12:106534600-106536600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:106534600-106537600	Weak transcription	Placenta	Placenta
6	chr12:106534600-106538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:106534600-106538200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:106534600-106538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:106534600-106538600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:106534600-106539000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:106534600-106539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:106534600-106539200	Weak transcription	Lung	lung
13	chr12:106534600-106539200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:106534600-106539600	Weak transcription	Aorta	Aorta
15	chr12:106534600-106541600	Weak transcription	HSMM	muscle
16	chr12:106534800-106536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:106534800-106538800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:106534800-106539200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:106534800-106539200	Enhancers	Liver	Liver
20	chr12:106534800-106540000	Enhancers	Brain Substantia Nigra	brain
21	chr12:106534800-106542000	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:106535000-106536400	Weak transcription	Fetal Stomach	stomach
23	chr12:106535000-106536600	Genic enhancers	A549	lung
24	chr12:106535000-106536800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:106535000-106537200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:106535000-106538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:106535000-106540000	Enhancers	HSMMtube	muscle
28	chr12:106535000-106540200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:106535200-106537000	Enhancers	Fetal Brain Male	brain
30	chr12:106535200-106537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:106535200-106539200	Weak transcription	Fetal Kidney	kidney
32	chr12:106535400-106536200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:106535400-106536400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:106535400-106536600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:106535400-106537000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:106535400-106537400	Enhancers	Fetal Heart	heart
37	chr12:106535400-106537600	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:106535400-106537600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr12:106535400-106538000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:106535400-106538400	Weak transcription	NHEK	skin
41	chr12:106535400-106538400	Weak transcription	Osteobl	bone
42	chr12:106535400-106539200	Weak transcription	Fetal Intestine Large	intestine
43	chr12:106535400-106539200	Weak transcription	Gastric	stomach
44	chr12:106535600-106536200	Enhancers	Right Ventricle	heart
45	chr12:106535600-106536400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:106535600-106536400	Weak transcription	Fetal Lung	lung
47	chr12:106535600-106536600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:106535600-106536600	Weak transcription	Brain Angular Gyrus	brain
49	chr12:106535600-106536600	Weak transcription	Brain Anterior Caudate	brain
50	chr12:106535600-106536600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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