Variant report

Variant	rs114630888
Chromosome Location	chr10:23481217-23481218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr10:23479936-23482481	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr10:23479864-23482543	NT2-D1	testis:	n/a	n/a
3	ZNF263	chr10:23481214-23482132	HEK293-T-REx	kidney:	n/a	n/a
4	MAX	chr10:23480702-23481272	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr10:23479777-23482696	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:23481176-23481226	K562	blood:	n/a
2	chr10:23481176-23481226	MCF-7	breast:	n/a
3	chr10:23481176-23481226	IMR90	lung:	fetal
4	chr10:23481176-23481226	T-47D	breast:	n/a
5	chr10:23481176-23481226	RPTEC	kidney:	n/a
6	chr10:23481176-23481226	HRCEpiC	kidney:	n/a
7	chr10:23481176-23481226	HUVEC	blood vessel:	n/a
8	chr10:23481176-23481226	HL-60	blood:	n/a
9	chr10:23481176-23481226	AG04450	lung:	fetal
10	chr10:23481176-23481226	NH-A	brain:	n/a
11	chr10:23481176-23481226	AG09309	skin:	n/a
12	chr10:23481176-23481226	A549	lung:	n/a
13	chr10:23481176-23481226	SK-N-MC	brain:	n/a
14	chr10:23481176-23481226	GM12891	blood:	n/a
15	chr10:23481176-23481226	HRE	kidney:	n/a
16	chr10:23481176-23481226	Caco-2	colon:	n/a
17	chr10:23481176-23481226	HCF	heart:	n/a
18	chr10:23481176-23481226	SK-N-SH_RA	brain:	n/a
19	chr10:23481176-23481226	PANC-1	pancreas:	n/a
20	chr10:23481176-23481226	HepG2	liver:	n/a
21	chr10:23481176-23481226	HCPEpiC	choroid plexus:	n/a
22	chr10:23481176-23481226	SKMC	muscle:	n/a
23	chr10:23481176-23481226	HIPEpiC	eye:	n/a
24	chr10:23481176-23481226	GM12892	blood:	n/a
25	chr10:23481176-23481226	Hepatocyte	liver:	n/a
26	chr10:23481176-23481226	MCF10A-Er-Src	breast:	n/a
27	chr10:23481176-23481226	AoSMC	blood vessel:	n/a
28	chr10:23481176-23481226	BJ	skin:	n/a
29	chr10:23481176-23481226	NHBE	bronchial:	n/a
30	chr10:23481176-23481226	GM19239	blood:	n/a
31	chr10:23481176-23481226	HCM	heart:	n/a
32	chr10:23481176-23481226	SK-N-SH	brain:	n/a
33	chr10:23481176-23481226	AG10803	skin:	n/a
34	chr10:23481176-23481226	HAEpiC	amniotic membrane:	n/a
35	chr10:23481176-23481226	NHDF-neo	bronchial:	n/a
36	chr10:23481176-23481226	HPAEpiC	pulmonary alveolar:	n/a
37	chr10:23481176-23481226	PrEC	prostate:	n/a
38	chr10:23481176-23481226	LNCaP	prostate:	n/a
39	chr10:23481176-23481226	ProgFib	skin:	n/a
40	chr10:23481176-23481226	HEK293	kidney:	embryo
41	chr10:23481176-23481226	BE2_C	brain:	n/a
42	chr10:23481176-23481226	HCT-116	colon:	n/a
43	chr10:23481176-23481226	HMEC	breast:	n/a
44	chr10:23481176-23481226	SAEC	small airway:	n/a
45	chr10:23481176-23481226	Jurkat	blood:	n/a
46	chr10:23481176-23481226	HEEpiC	esophagus:	n/a
47	chr10:23481176-23481226	NB4	blood:	n/a
48	chr10:23481176-23481226	AG04449	skin:	fetal
49	chr10:23481176-23481226	ECC-1	luminal epithelium:	n/a
50	chr10:23481176-23481226	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
PTF1A	TF binding region
PTF1A	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825301	chr10:23440604-23505846	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv831810	chr10:23445647-23605270	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv825302	chr10:23457022-23497329	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2754706	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2756096	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv430137	chr10:23477062-23509344	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3408507	chr10:23479971-23482819	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
8	esv3322961	chr10:23480571-23483119	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	esv3374760	chr10:23480971-23483819	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23479200-23481600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:23479200-23483400	Active TSS	Pancreas	Pancrea
3	chr10:23479600-23481400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:23479800-23482600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:23480000-23481600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr10:23480000-23481800	Bivalent Enhancer	Fetal Brain Male	brain
7	chr10:23480200-23482400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr10:23480200-23482600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr10:23480200-23484400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr10:23480400-23481400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr10:23480400-23481400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr10:23480400-23481800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr10:23480400-23482400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr10:23480400-23482400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr10:23480400-23482600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:23480600-23481600	Bivalent Enhancer	Colonic Mucosa	Colon
17	chr10:23480600-23481800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
18	chr10:23480600-23482200	Bivalent Enhancer	Spleen	Spleen
19	chr10:23480800-23481600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr10:23480800-23481600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:23480800-23481600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr10:23480800-23481600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr10:23480800-23481600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr10:23480800-23482000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr10:23480800-23482200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr10:23480800-23482200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:23480800-23482200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
28	chr10:23480800-23482200	Bivalent/Poised TSS	Fetal Brain Female	brain
29	chr10:23480800-23482200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr10:23480800-23482800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr10:23481000-23481600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
32	chr10:23481000-23481600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:23481000-23481600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:23481000-23482200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
35	chr10:23481000-23482400	Enhancers	Liver	Liver
36	chr10:23481200-23481400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
37	chr10:23481200-23481400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr10:23481200-23481400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr10:23481200-23481400	Active TSS	Right Atrium	heart
40	chr10:23481200-23481600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr10:23481200-23481600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:23481200-23481600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:23481200-23481600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr10:23481200-23481600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:23481200-23481600	Bivalent Enhancer	Brain Angular Gyrus	brain
46	chr10:23481200-23481600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
47	chr10:23481200-23481600	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr10:23481200-23481800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:23481200-23482200	Bivalent Enhancer	Lung	lung
50	chr10:23481200-23482600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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