Variant report

Variant	rs550777488
Chromosome Location	chr12:64845235-64845236
allele	A/C
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	EP300	chr12:64844879-64847455	K562	blood:	n/a	chr12:64845843-64845859 chr12:64846924-64846933 chr12:64846000-64846016 chr12:64845898-64845905 chr12:64846027-64846043 chr12:64846240-64846256
2	POLR2A	chr12:64844936-64845302	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:64844809-64846944	PANC-1	pancreas:	n/a	n/a
4	USF2	chr12:64844952-64846070	Hela-S3	cervix:	n/a	chr12:64845844-64845860 chr12:64845865-64845876 chr12:64845978-64845994
5	POLR2A	chr12:64844713-64847395	PBDE	blood:	n/a	n/a
6	POLR2A	chr12:64844971-64845318	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:64844538-64847042	K562	blood:	n/a	n/a
8	POLR2A	chr12:64844526-64846950	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:64844894-64845295	K562	blood:	n/a	n/a
10	POLR2A	chr12:64844954-64846235	HCT-116	colon:	n/a	n/a
11	MAZ	chr12:64845060-64845561	HepG2	liver:	n/a	chr12:64845543-64845553 chr12:64845541-64845550
12	MAX	chr12:64845129-64846318	GM12878	blood:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64845867-64845876 chr12:64845541-64845550
13	POLR2A	chr12:64844957-64845261	K562	blood:	n/a	n/a
14	MAX	chr12:64844884-64847013	ECC-1	luminal epithelium:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64846924-64846933 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
15	SPI1	chr12:64844896-64845267	HL-60	blood:	n/a	chr12:64845104-64845111
16	POLR2A	chr12:64844974-64846366	GM19099	blood:	n/a	n/a
17	PML	chr12:64845002-64847133	K562	blood:	n/a	n/a
18	MAX	chr12:64845163-64846354	Hela-S3	cervix:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
19	REST	chr12:64845134-64846499	A549	lung:	n/a	chr12:64846150-64846168
20	POLR2A	chr12:64844892-64847217	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr12:64843943-64846937	MCF-7	breast:	n/a	n/a
22	GTF2F1	chr12:64845059-64845264	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr12:64844910-64847204	IMR90	lung:	n/a	n/a
24	POLR2A	chr12:64843925-64845284	HCT-116	colon:	n/a	n/a
25	MXI1	chr12:64845021-64846019	H1-hESC	embryonic stem cell:	n/a	chr12:64845544-64845553 chr12:64845866-64845875
26	POLR2A	chr12:64844036-64846476	PANC-1	pancreas:	n/a	n/a
27	SIN3AK20	chr12:64844831-64847232	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:64844834-64847150	U87	brain:	n/a	n/a
29	MXI1	chr12:64844922-64846485	GM12878	blood:	n/a	chr12:64845544-64845553 chr12:64845866-64845875
30	POLR2A	chr12:64845212-64846982	HUVEC	blood vessel:	n/a	n/a
31	SIN3AK20	chr12:64844973-64845273	K562	blood:	n/a	n/a
32	POLR2A	chr12:64844891-64845249	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr12:64844831-64846438	HL-60	blood:	n/a	n/a
34	MAX	chr12:64844918-64847053	NB4	blood:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64846924-64846933 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
35	POLR2A	chr12:64843821-64846588	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr12:64844792-64846025	MCF10A-Er-Src	breast:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64845867-64845876 chr12:64845541-64845550
37	POLR2A	chr12:64845000-64846361	GM15510	blood:	n/a	n/a
38	POLR2A	chr12:64842636-64846905	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr12:64844461-64847681	SK-N-SH	brain:	n/a	chr12:64845544-64845553 chr12:64845866-64845875
40	MAX	chr12:64844900-64847216	A549	lung:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64846924-64846933 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
41	HMGN3	chr12:64844979-64846363	K562	blood:	n/a	n/a
42	MYC	chr12:64844938-64847111	K562	blood:	n/a	chr12:64845921-64845931 chr12:64845866-64845877 chr12:64845867-64845876 chr12:64845543-64845553 chr12:64845554-64845570 chr12:64845865-64845878 chr12:64846924-64846933 chr12:64845867-64845876 chr12:64845541-64845550 chr12:64846338-64846348
43	UBTF	chr12:64844943-64847081	K562	blood:	n/a	n/a
44	HCFC1	chr12:64844619-64847795	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr12:64844935-64847117	Hela-S3	cervix:	n/a	chr12:64845544-64845553 chr12:64845866-64845875
46	RCOR1	chr12:64845005-64846870	GM12878	blood:	n/a	n/a
47	MAFF	chr12:64845093-64845624	K562	blood:	n/a	n/a
48	POLR2A	chr12:64844910-64846464	K562	blood:	n/a	n/a
49	CEBPB	chr12:64845075-64845275	K562	blood:	n/a	n/a
50	ZC3H11A	chr12:64845027-64846184	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:64796894..64803590-chr12:64839858..64848176,19	K562	blood:
2	chr12:64817684..64820353-chr12:64842113..64845910,3	K562	blood:
3	chr12:64844835..64848934-chr12:65001187..65005448,7	MCF-7	breast:
4	chr12:64614514..64616589-chr12:64845108..64847445,2	K562	blood:
5	chr12:64794953..64800786-chr12:64842676..64849530,27	K562	blood:
6	chr12:64844696..64847501-chr12:65001513..65004366,3	K562	blood:
7	chr12:64845005..64845840-chr5:90678787..90679555,2	Hela-S3	cervix:
8	chr12:64805977..64807878-chr12:64843024..64845293,2	K562	blood:
9	chr12:64796556..64799872-chr12:64845124..64847065,5	MCF-7	breast:
10	chr12:64835889..64842524-chr12:64842731..64847480,12	K562	blood:
11	chr12:64797372..64804702-chr12:64843540..64848189,12	MCF-7	breast:

Variant related genes	Relation type
TBK1	TF binding region
ENSG00000184575	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000255566	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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	esv3442048	chr12:64844710-64847258	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64831000-64845400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:64831000-64845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:64831000-64845400	Weak transcription	Small Intestine	intestine
4	chr12:64837600-64845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:64841600-64845400	Weak transcription	Lung	lung
6	chr12:64844200-64847600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:64844400-64845400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:64844400-64845400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:64844400-64845600	Flanking Active TSS	Dnd41	blood
10	chr12:64844400-64846000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:64844600-64845400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:64844600-64845600	Flanking Active TSS	NH-A	brain
13	chr12:64844600-64847000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:64844600-64847400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:64844600-64847400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr12:64844800-64845400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr12:64844800-64845400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:64844800-64845400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr12:64844800-64845400	Flanking Active TSS	Osteobl	bone
20	chr12:64844800-64845600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:64844800-64845600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:64844800-64845600	Flanking Active TSS	Liver	Liver
23	chr12:64844800-64845600	Active TSS	Brain Germinal Matrix	brain
24	chr12:64844800-64847200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:64844800-64847200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:64844800-64847400	Active TSS	A549	lung
27	chr12:64844800-64847600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr12:64844800-64847800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:64844800-64847800	Active TSS	NHLF	lung
30	chr12:64844800-64848000	Active TSS	K562	blood
31	chr12:64845000-64845400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:64845000-64845400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:64845000-64845400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:64845000-64845400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:64845000-64845400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr12:64845000-64845400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr12:64845000-64845400	Enhancers	Stomach Mucosa	stomach
38	chr12:64845000-64845400	Active TSS	Thymus	Thymus
39	chr12:64845000-64845600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:64845000-64845600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr12:64845000-64845600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:64845000-64845600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr12:64845000-64845600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr12:64845000-64845600	Active TSS	Right Atrium	heart
45	chr12:64845000-64845600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr12:64845000-64845600	Flanking Active TSS	NHEK	skin
47	chr12:64845000-64845800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr12:64845000-64845800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr12:64845000-64845800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:64845000-64845800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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