Variant report

Variant	rs35629568
Chromosome Location	chr12:118573498-118573499
allele	-/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	SIN3A	chr12:118573423-118574803	H1-hESC	embryonic stem cell:	n/a	chr12:118573865-118573876
2	RCOR1	chr12:118573433-118574136	Hela-S3	cervix:	n/a	n/a
3	MYC	chr12:118573411-118574731	MCF10A-Er-Src	breast:	n/a	chr12:118573848-118573857
4	POLR2A	chr12:118573307-118574273	PFSK-1	brain:	n/a	n/a
5	BHLHE40	chr12:118573428-118574104	HepG2	liver:	n/a	chr12:118573980-118573996
6	TAF1	chr12:118573398-118574633	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr12:118573494-118574739	GM12891	blood:	n/a	n/a
8	TAF7	chr12:118573487-118574162	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:118573396-118575412	GM12878	blood:	n/a	n/a
10	PML	chr12:118573426-118574871	GM12878	blood:	n/a	n/a
11	RCOR1	chr12:118573419-118574082	K562	blood:	n/a	n/a
12	POLR2A	chr12:118573455-118574333	HL-60	blood:	n/a	n/a
13	SP1	chr12:118573328-118574664	HCT-116	colon:	n/a	chr12:118573815-118573836
14	MTA3	chr12:118573425-118574892	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:118573459-118574221	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr12:118573409-118574858	GM12892	blood:	n/a	n/a
17	POLR2A	chr12:118573401-118574296	HUVEC	blood vessel:	n/a	n/a
18	MAX	chr12:118573330-118574353	HCT-116	colon:	n/a	chr12:118573848-118573857
19	MYBL2	chr12:118573186-118574031	HepG2	liver:	n/a	n/a
20	HCFC1	chr12:118573488-118574172	K562	blood:	n/a	n/a
21	YY1	chr12:118573362-118574102	A549	lung:	n/a	chr12:118573865-118573876
22	REST	chr12:118573458-118574171	HepG2	liver:	n/a	chr12:118573856-118573869 chr12:118573990-118574003
23	ZNF384	chr12:118572823-118574139	K562	blood:	n/a	n/a
24	POLR2A	chr12:118573415-118574310	U87	brain:	n/a	n/a
25	POLR2A	chr12:118573496-118575026	MCF10A-Er-Src	breast:	n/a	n/a
26	RUNX3	chr12:118573434-118574135	GM12878	blood:	n/a	n/a
27	MYC	chr12:118573452-118574736	K562	blood:	n/a	chr12:118573848-118573857
28	POLR2A	chr12:118573456-118574765	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr12:118573308-118574818	MCF-7	breast:	n/a	chr12:118573848-118573857
30	POLR2A	chr12:118573463-118574732	HL-60	blood:	n/a	n/a
31	GATA3	chr12:118573392-118574315	A549	lung:	n/a	n/a
32	POLR2A	chr12:118573461-118574232	HepG2	liver:	n/a	n/a
33	POLR2A	chr12:118573423-118574841	GM12892	blood:	n/a	n/a
34	YY1	chr12:118573330-118574169	GM12878	blood:	n/a	chr12:118574158-118574167 chr12:118573865-118573876
35	POLR2A	chr12:118573498-118574264	Hela-S3	cervix:	n/a	n/a
36	RUNX3	chr12:118573490-118574816	GM12878	blood:	n/a	n/a
37	MAX	chr12:118573449-118574424	MCF-7	breast:	n/a	chr12:118573848-118573857
38	TCF12	chr12:118573195-118574667	A549	lung:	n/a	n/a
39	MYC	chr12:118573461-118574764	NB4	blood:	n/a	chr12:118573848-118573857
40	MAX	chr12:118573248-118574359	HepG2	liver:	n/a	chr12:118573848-118573857
41	MXI1	chr12:118573231-118575154	SK-N-SH	brain:	n/a	n/a
42	ZBTB33	chr12:118573498-118574177	HCT-116	colon:	n/a	chr12:118573782-118573797
43	MAX	chr12:118573481-118574823	ECC-1	luminal epithelium:	n/a	chr12:118573848-118573857
44	POLR2A	chr12:118573339-118574291	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr12:118573473-118574852	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr12:118573401-118575268	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr12:118573432-118573782	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr12:118573497-118574308	MCF-7	breast:	n/a	n/a
49	MAX	chr12:118573424-118574168	SK-N-SH	brain:	n/a	chr12:118573848-118573857
50	E2F6	chr12:118573389-118574620	A549	lung:	n/a	chr12:118573816-118573825 chr12:118574158-118574167

No.	Distal block	Cell Line	Cell type
1	chr12:118572886..118574851-chr17:57922727..57925338,2	MCF-7	breast:
2	chr12:118540025..118541851-chr12:118573172..118576109,2	MCF-7	breast:
3	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
4	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
5	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
6	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
7	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
8	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
9	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
10	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
11	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
12	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAOK3-1	chr12:118573444-118573547	NONHSAT031026

Variant related genes	Relation type
PEBP1	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000270482	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv3406515	chr12:118572594-118575442	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118569800-118573600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:118570200-118573600	Weak transcription	Stomach Mucosa	stomach
3	chr12:118572600-118573600	Flanking Active TSS	Liver	Liver
4	chr12:118572600-118574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr12:118572600-118575400	Active TSS	A549	lung
7	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:118572800-118573600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr12:118572800-118573600	Enhancers	Spleen	Spleen
10	chr12:118572800-118573800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:118572800-118573800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:118572800-118574000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:118572800-118574000	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:118572800-118574000	Active TSS	HepG2	liver
15	chr12:118572800-118574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:118572800-118574800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:118572800-118574800	Active TSS	Duodenum Mucosa	Duodenum
18	chr12:118572800-118574800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:118572800-118575000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:118572800-118575000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:118572800-118575000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:118572800-118575000	Active TSS	Brain Anterior Caudate	brain
23	chr12:118572800-118575000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr12:118572800-118575000	Active TSS	Rectal Smooth Muscle	rectum
25	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
26	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:118572800-118575400	Active TSS	HSMM	muscle
29	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
30	chr12:118572800-118575400	Active TSS	NHLF	lung
31	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:118573000-118573800	Flanking Active TSS	Placenta	Placenta
33	chr12:118573000-118574000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:118573000-118574000	Active TSS	Brain Germinal Matrix	brain
35	chr12:118573000-118574800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:118573000-118574800	Active TSS	Fetal Lung	lung
37	chr12:118573000-118574800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr12:118573000-118574800	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr12:118573000-118574800	Active TSS	Hela-S3	cervix
40	chr12:118573000-118574800	Active TSS	NHEK	skin
41	chr12:118573000-118575000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:118573000-118575000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:118573000-118575000	Active TSS	GM12878-XiMat	blood
44	chr12:118573000-118575200	Active TSS	Ovary	ovary
45	chr12:118573000-118575400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr12:118573000-118575400	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:118573200-118573600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr12:118573200-118573600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr12:118573200-118573600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr12:118573200-118573600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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