Variant report

Variant	rs13377633
Chromosome Location	chr12:41582075-41582076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr12:41581873-41584401	NT2-D1	testis:	n/a	n/a
2	MAX	chr12:41581911-41582681	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr12:41581857-41582620	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr12:41581993-41582968	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr12:41581830-41582672	H1-hESC	embryonic stem cell:	n/a	chr12:41582021-41582030 chr12:41582154-41582164
6	ZNF143	chr12:41581948-41582560	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr12:41581943-41582500	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr12:41581893-41582926	H1-hESC	embryonic stem cell:	n/a	chr12:41582021-41582030 chr12:41582154-41582164

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:41582067-41582117	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:41582067-41582117	ProgFib	skin:	n/a
3	chr12:41582063-41582113	NH-A	brain:	n/a
4	chr12:41582063-41582113	HRCEpiC	kidney:	n/a
5	chr12:41582063-41582113	GM12892	blood:	n/a
6	chr12:41582067-41582117	ovcar-3	ovarian:	n/a
7	chr12:41582067-41582117	NH-A	brain:	n/a
8	chr12:41582063-41582113	NHBE	bronchial:	n/a
9	chr12:41582067-41582117	Hepatocyte	liver:	n/a
10	chr12:41582063-41582113	AoSMC	blood vessel:	n/a
11	chr12:41582063-41582113	Jurkat	blood:	n/a
12	chr12:41582063-41582113	LNCaP	prostate:	n/a
13	chr12:41582063-41582113	HCPEpiC	choroid plexus:	n/a
14	chr12:41582063-41582113	Hela-S3	cervix:	n/a
15	chr12:41582063-41582113	HRE	kidney:	n/a
16	chr12:41582063-41582113	GM12878	blood:	n/a
17	chr12:41582067-41582117	IMR90	lung:	fetal
18	chr12:41582063-41582113	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:41582063-41582113	ECC-1	luminal epithelium:	n/a
20	chr12:41582063-41582113	AG09309	skin:	n/a
21	chr12:41582063-41582113	BE2_C	brain:	n/a
22	chr12:41582063-41582113	AG10803	skin:	n/a
23	chr12:41582067-41582117	HNPCEpiC	eye:	n/a
24	chr12:41582063-41582113	HEEpiC	esophagus:	n/a
25	chr12:41582067-41582117	RPTEC	kidney:	n/a
26	chr12:41582067-41582117	HCM	heart:	n/a
27	chr12:41582067-41582117	HUVEC	blood vessel:	n/a
28	chr12:41582063-41582113	AG09319	gingival:	n/a
29	chr12:41582067-41582117	Jurkat	blood:	n/a
30	chr12:41582063-41582113	HCM	heart:	n/a
31	chr12:41582067-41582117	AG10803	skin:	n/a
32	chr12:41582067-41582117	HCF	heart:	n/a
33	chr12:41582063-41582113	ProgFib	skin:	n/a
34	chr12:41582063-41582113	NB4	blood:	n/a
35	chr12:41582067-41582117	AG04450	lung:	fetal
36	chr12:41582063-41582113	HIPEpiC	eye:	n/a
37	chr12:41582063-41582113	GM19239	blood:	n/a
38	chr12:41582067-41582117	CMK	blood:	n/a
39	chr12:41582067-41582117	K562	blood:	n/a
40	chr12:41582063-41582113	SKMC	muscle:	n/a
41	chr12:41582063-41582113	HCT-116	colon:	n/a
42	chr12:41582063-41582113	MCF10A-Er-Src	breast:	n/a
43	chr12:41582067-41582117	PANC-1	pancreas:	n/a
44	chr12:41582063-41582113	PANC-1	pancreas:	n/a
45	chr12:41582067-41582117	Caco-2	colon:	n/a
46	chr12:41582067-41582117	HIPEpiC	eye:	n/a
47	chr12:41582063-41582113	AG04450	lung:	fetal
48	chr12:41582067-41582117	HL-60	blood:	n/a
49	chr12:41582067-41582117	H1-hESC	embryonic stem cell:	embryo
50	chr12:41582063-41582113	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
PDZRN4	TF binding region
PDZRN4	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11180478	0.87[EUR][1000 genomes]
rs11180566	0.85[EUR][1000 genomes]
rs11180567	0.85[EUR][1000 genomes]
rs11180586	0.82[EUR][1000 genomes]
rs11180587	0.82[EUR][1000 genomes]
rs11180626	0.85[EUR][1000 genomes]
rs11180634	0.85[EUR][1000 genomes]
rs11180646	0.82[EUR][1000 genomes]
rs11838259	0.84[EUR][1000 genomes]
rs12297017	0.83[EUR][1000 genomes]
rs12300590	0.85[EUR][1000 genomes]
rs12300840	0.85[EUR][1000 genomes]
rs12300884	0.85[EUR][1000 genomes]
rs12300953	0.85[EUR][1000 genomes]
rs12302094	0.85[EUR][1000 genomes]
rs12304516	0.87[EUR][1000 genomes]
rs12305252	0.87[EUR][1000 genomes]
rs12305924	0.85[EUR][1000 genomes]
rs12306285	0.85[EUR][1000 genomes]
rs12307937	0.85[EUR][1000 genomes]
rs12310793	0.85[EUR][1000 genomes]
rs12310860	0.87[EUR][1000 genomes]
rs12313636	0.82[EUR][1000 genomes]
rs12315362	0.87[EUR][1000 genomes]
rs12315979	0.85[EUR][1000 genomes]
rs1367606	0.85[EUR][1000 genomes]
rs1431123	0.82[EUR][1000 genomes]
rs1431125	0.85[EUR][1000 genomes]
rs1431126	0.85[EUR][1000 genomes]
rs17129202	0.82[EUR][1000 genomes]
rs17129211	0.82[EUR][1000 genomes]
rs2217492	0.85[EUR][1000 genomes]
rs2405771	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858730	0.85[EUR][1000 genomes]
rs67832493	0.85[EUR][1000 genomes]
rs73268788	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73279870	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73281725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41581200-41585200	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:41581400-41584400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:41581600-41583600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:41581600-41583800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:41581600-41584200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:41581600-41584400	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:41581800-41582200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:41581800-41582200	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr12:41581800-41582200	Active TSS	Ovary	ovary
10	chr12:41581800-41582200	Enhancers	Pancreas	Pancrea
11	chr12:41581800-41582200	Active TSS	Right Ventricle	heart
12	chr12:41581800-41582200	Bivalent Enhancer	Spleen	Spleen
13	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
14	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
17	chr12:41581800-41582400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
18	chr12:41581800-41582600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr12:41581800-41582600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:41581800-41582600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:41581800-41582600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:41581800-41582800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:41581800-41582800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:41581800-41583000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:41581800-41583000	Active TSS	Brain Hippocampus Middle	brain
26	chr12:41581800-41583000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:41581800-41583000	Bivalent Enhancer	Fetal Brain Male	brain
28	chr12:41581800-41583400	Active TSS	Brain Anterior Caudate	brain
29	chr12:41581800-41583800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:41581800-41584000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:41581800-41584200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr12:41581800-41584200	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:41581800-41584400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr12:41581800-41584600	Active TSS	Brain Substantia Nigra	brain
35	chr12:41581800-41585200	Active TSS	Colon Smooth Muscle	Colon
36	chr12:41582000-41582200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:41582000-41582200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:41582000-41582200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:41582000-41582200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:41582000-41582200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr12:41582000-41582200	Bivalent/Poised TSS	Esophagus	oesophagus
42	chr12:41582000-41582200	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr12:41582000-41582200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr12:41582000-41582200	Active TSS	Placenta	Placenta
45	chr12:41582000-41582200	Bivalent/Poised TSS	Fetal Stomach	stomach
46	chr12:41582000-41582200	Enhancers	Gastric	stomach
47	chr12:41582000-41582200	Bivalent Enhancer	Left Ventricle	heart
48	chr12:41582000-41582200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
49	chr12:41582000-41582200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr12:41582000-41582200	Bivalent/Poised TSS	HUVEC	blood vessel

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