Variant report

Variant	rs533316178
Chromosome Location	chr12:118541071-118541072
allele	A/T
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	ZNF384	chr12:118541060-118541217	GM12878	blood:	n/a	n/a
2	MXI1	chr12:118541025-118542244	HepG2	liver:	n/a	n/a
3	MAX	chr12:118540886-118541477	ECC-1	luminal epithelium:	n/a	chr12:118541100-118541110 chr12:118541178-118541188
4	MYC	chr12:118540978-118541129	K562	blood:	n/a	chr12:118541100-118541110
5	POLR2A	chr12:118541044-118542330	MCF-7	breast:	n/a	n/a
6	MAX	chr12:118540911-118541526	H1-hESC	embryonic stem cell:	n/a	chr12:118541100-118541110 chr12:118541178-118541188
7	MAX	chr12:118540858-118542520	A549	lung:	n/a	chr12:118541100-118541110 chr12:118541778-118541788 chr12:118541178-118541188
8	GTF2F1	chr12:118541053-118541101	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr12:118540493-118542395	H1-hESC	embryonic stem cell:	n/a	chr12:118541994-118542007
10	ZBTB7A	chr12:118540998-118541993	ECC-1	luminal epithelium:	n/a	n/a
11	RCOR1	chr12:118541061-118542348	Hela-S3	cervix:	n/a	n/a
12	BHLHE40	chr12:118540927-118541296	GM12878	blood:	n/a	chr12:118541198-118541214
13	USF2	chr12:118540919-118541092	Hela-S3	cervix:	n/a	n/a
14	MAX	chr12:118540907-118542215	HepG2	liver:	n/a	chr12:118541100-118541110 chr12:118541778-118541788 chr12:118541178-118541188
15	MAX	chr12:118540898-118542371	NB4	blood:	n/a	chr12:118541100-118541110 chr12:118541778-118541788 chr12:118541178-118541188
16	MYC	chr12:118540986-118541186	MCF10A-Er-Src	breast:	n/a	chr12:118541100-118541110
17	SIN3AK20	chr12:118540801-118541347	A549	lung:	n/a	n/a
18	SIN3AK20	chr12:118540939-118541380	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr12:118541062-118542262	A549	lung:	n/a	n/a
20	MAX	chr12:118540867-118542427	MCF-7	breast:	n/a	chr12:118541100-118541110 chr12:118541778-118541788 chr12:118541178-118541188
21	ZKSCAN1	chr12:118539978-118541182	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr12:118540627-118542571	SK-N-SH	brain:	n/a	n/a
23	MAZ	chr12:118540824-118542513	IMR90	lung:	n/a	chr12:118541778-118541788 chr12:118541178-118541188
24	USF1	chr12:118540942-118541204	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:118540952-118542169	HepG2	liver:	n/a	n/a
26	CHD1	chr12:118540672-118541676	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:118541006-118542281	A549	lung:	n/a	n/a
28	CEBPB	chr12:118540763-118542351	Hela-S3	cervix:	n/a	n/a
29	USF1	chr12:118541020-118541178	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr12:118540834-118542408	MCF-7	breast:	n/a	n/a
31	TCF12	chr12:118540954-118542201	MCF-7	breast:	n/a	n/a
32	ZBTB7A	chr12:118540912-118542199	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr12:118540849-118541431	SK-N-SH	brain:	n/a	chr12:118541100-118541110 chr12:118541178-118541188
34	POLR2A	chr12:118541040-118542318	ECC-1	luminal epithelium:	n/a	n/a
35	MXI1	chr12:118540962-118541197	Hela-S3	cervix:	n/a	n/a
36	TCF12	chr12:118540928-118542580	A549	lung:	n/a	n/a
37	TBP	chr12:118540991-118542328	H1-hESC	embryonic stem cell:	n/a	n/a
38	REST	chr12:118541050-118542487	A549	lung:	n/a	chr12:118541994-118542007 chr12:118541643-118541656 chr12:118541916-118541929
39	TAF1	chr12:118540869-118542112	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:118540987-118542457	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:118540838-118542595	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr12:118540828-118542395	Hela-S3	cervix:	n/a	chr12:118541100-118541110 chr12:118541778-118541788 chr12:118541178-118541188
43	ZNF263	chr12:118540935-118542464	HEK293-T-REx	kidney:	n/a	chr12:118541564-118541573 chr12:118541826-118541835
44	MAX	chr12:118540890-118541309	SK-N-SH	brain:	n/a	chr12:118541100-118541110 chr12:118541178-118541188
45	E2F6	chr12:118540871-118542340	A549	lung:	n/a	chr12:118541719-118541728 chr12:118541777-118541789
46	MAX	chr12:118540887-118541447	ECC-1	luminal epithelium:	n/a	chr12:118541100-118541110 chr12:118541178-118541188
47	CREB1	chr12:118541029-118542250	A549	lung:	n/a	n/a
48	SMARCC1	chr12:118540881-118542330	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:118540862-118542545	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:118541058-118541148	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
2	chr12:117627165..117629540-chr12:118540302..118543294,2	MCF-7	breast:
3	chr12:118539824..118542719-chr12:118557194..118560231,3	MCF-7	breast:
4	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
5	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
6	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
7	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

Variant related genes	Relation type
VSIG10	TF binding region
ENSG00000135108	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	esv3357072	chr12:118540094-118543142	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118539800-118542200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:118540000-118541400	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr12:118540200-118542400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:118540200-118542600	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr12:118540400-118541200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:118540400-118541200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:118540400-118541200	Flanking Active TSS	Dnd41	blood
8	chr12:118540400-118541600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr12:118540400-118542200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:118540400-118542200	Active TSS	Pancreas	Pancrea
11	chr12:118540400-118542200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:118540400-118542400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:118540400-118542400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:118540400-118542400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:118540400-118542400	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr12:118540400-118542400	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr12:118540400-118542600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:118540400-118542600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr12:118540400-118542600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:118540400-118542600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr12:118540400-118542600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:118540400-118542600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr12:118540600-118541200	Active TSS	Colonic Mucosa	Colon
24	chr12:118540600-118541400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:118540600-118541800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:118540600-118542000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:118540600-118542000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:118540600-118542200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:118540600-118542200	Active TSS	A549	lung
30	chr12:118540600-118542400	Active TSS	Esophagus	oesophagus
31	chr12:118540600-118542400	Active TSS	Fetal Kidney	kidney
32	chr12:118540600-118542400	Active TSS	HepG2	liver
33	chr12:118540600-118542600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr12:118540600-118542600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:118540600-118542600	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:118540600-118542600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr12:118540600-118542600	Active TSS	Rectal Smooth Muscle	rectum
38	chr12:118540600-118542600	Active TSS	NHLF	lung
39	chr12:118540800-118541200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr12:118540800-118541200	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr12:118540800-118541200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:118540800-118541200	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr12:118540800-118541200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr12:118540800-118541200	Flanking Active TSS	Fetal Stomach	stomach
45	chr12:118540800-118541400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr12:118540800-118541400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:118540800-118541400	Flanking Active TSS	Liver	Liver
48	chr12:118540800-118541400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:118540800-118541400	Flanking Active TSS	Placenta	Placenta
50	chr12:118540800-118541400	Bivalent/Poised TSS	Thymus	Thymus

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