Variant report

Variant	rs371080384
Chromosome Location	chr12:118573303-118573304
allele	C/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	POLR2A	chr12:118572670-118573357	HepG2	liver:	n/a	n/a
2	MYBL2	chr12:118573186-118574031	HepG2	liver:	n/a	n/a
3	ZNF384	chr12:118572823-118574139	K562	blood:	n/a	n/a
4	TCF12	chr12:118573195-118574667	A549	lung:	n/a	n/a
5	MAX	chr12:118573248-118574359	HepG2	liver:	n/a	chr12:118573848-118573857
6	MXI1	chr12:118573231-118575154	SK-N-SH	brain:	n/a	n/a
7	SETDB1	chr12:118572800-118573923	U2OS	brain:	n/a	n/a
8	RCOR1	chr12:118572920-118574105	K562	blood:	n/a	n/a
9	REST	chr12:118573277-118574915	H1-neurons	neurons:	n/a	chr12:118574462-118574472 chr12:118573856-118573869 chr12:118573990-118574003
10	CBX3	chr12:118573143-118574171	K562	blood:	n/a	n/a
11	HCFC1	chr12:118573220-118575023	Hela-S3	cervix:	n/a	n/a
12	MAX	chr12:118573231-118575046	A549	lung:	n/a	chr12:118573848-118573857
13	MYC	chr12:118573273-118574892	A549	lung:	n/a	chr12:118573848-118573857
14	MXI1	chr12:118573223-118574973	IMR90	lung:	n/a	n/a
15	SP1	chr12:118573269-118574281	HCT-116	colon:	n/a	chr12:118573815-118573836
16	MAX	chr12:118573237-118574693	HCT-116	colon:	n/a	chr12:118573848-118573857
17	RFX5	chr12:118573166-118575203	SK-N-SH	brain:	n/a	chr12:118573817-118573826

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:

Variant related genes	Relation type
PEBP1	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
3	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:118563200-118573400	Weak transcription	Lung	lung
6	chr12:118569800-118573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:118569800-118573600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:118570200-118573400	Weak transcription	Colonic Mucosa	Colon
9	chr12:118570200-118573600	Weak transcription	Stomach Mucosa	stomach
10	chr12:118570400-118573400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:118572600-118573400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:118572600-118573600	Flanking Active TSS	Liver	Liver
13	chr12:118572600-118574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:118572600-118575400	Active TSS	A549	lung
16	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:118572800-118573400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:118572800-118573400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:118572800-118573400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:118572800-118573400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:118572800-118573400	Enhancers	Fetal Brain Male	brain
22	chr12:118572800-118573400	Enhancers	Fetal Heart	heart
23	chr12:118572800-118573400	Enhancers	Gastric	stomach
24	chr12:118572800-118573400	Enhancers	Thymus	Thymus
25	chr12:118572800-118573400	Flanking Active TSS	K562	blood
26	chr12:118572800-118573600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr12:118572800-118573600	Enhancers	Spleen	Spleen
28	chr12:118572800-118573800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:118572800-118573800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:118572800-118574000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:118572800-118574000	Active TSS	Stomach Smooth Muscle	stomach
32	chr12:118572800-118574000	Active TSS	HepG2	liver
33	chr12:118572800-118574800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:118572800-118574800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:118572800-118574800	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:118572800-118574800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:118572800-118575000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:118572800-118575000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:118572800-118575000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr12:118572800-118575000	Active TSS	Brain Anterior Caudate	brain
41	chr12:118572800-118575000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:118572800-118575000	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:118572800-118575400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr12:118572800-118575400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr12:118572800-118575400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:118572800-118575400	Active TSS	HSMM	muscle
47	chr12:118572800-118575400	Active TSS	NHDF-Ad	bronchial
48	chr12:118572800-118575400	Active TSS	NHLF	lung
49	chr12:118572800-118575800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:118573000-118573400	Enhancers	Primary monocytes fromperipheralblood	blood

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