Variant report

Variant	rs192273702
Chromosome Location	chr12:123634672-123634673
allele	G/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	chr12:123633969-123634733	K562	blood:	n/a	n/a
2	UBTF	chr12:123634016-123635929	K562	blood:	n/a	n/a
3	MAX	chr12:123634385-123635947	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
4	GATA1	chr12:123632620-123635248	K562	blood:	n/a	n/a
5	CTCF	chr12:123634644-123636349	SK-N-SH	brain:	n/a	chr12:123635144-123635157 chr12:123636264-123636273
6	ZBTB7A	chr12:123634598-123635237	ECC-1	luminal epithelium:	n/a	chr12:123634780-123634789
7	POLR2A	chr12:123634446-123634766	K562	blood:	n/a	n/a
8	UBTF	chr12:123633939-123636396	K562	blood:	n/a	n/a
9	MAZ	chr12:123633982-123634800	K562	blood:	n/a	n/a
10	SMARCB1	chr12:123634476-123635327	Hela-S3	cervix:	n/a	n/a
11	ZBTB7A	chr12:123634326-123635981	K562	blood:	n/a	chr12:123634780-123634789
12	ZBTB7A	chr12:123634603-123635347	ECC-1	luminal epithelium:	n/a	chr12:123634780-123634789
13	MXI1	chr12:123634450-123636293	IMR90	lung:	n/a	n/a
14	TEAD4	chr12:123633845-123634711	K562	blood:	n/a	n/a
15	MAX	chr12:123634264-123636428	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
16	TCF12	chr12:123634213-123634863	A549	lung:	n/a	n/a
17	NR2F2	chr12:123633660-123634721	K562	blood:	n/a	n/a
18	POLR2A	chr12:123634307-123636312	A549	lung:	n/a	n/a
19	TCF7L2	chr12:123634020-123634686	PANC-1	pancreas:	n/a	chr12:123634428-123634444 chr12:123634432-123634439
20	MAX	chr12:123634319-123636247	HepG2	liver:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
21	ZNF263	chr12:123633201-123635347	HEK293-T-REx	kidney:	n/a	chr12:123635122-123635131 chr12:123634374-123634395

No.	Distal block	Cell Line	Cell type
1	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
2	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
3	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
4	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
5	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
6	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
7	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
8	chr12:123633368..123635688-chr12:123701614..123704544,2	MCF-7	breast:
9	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
10	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
11	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000130921	Chromatin interaction

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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3439435	chr12:123634349-123637047	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3440997	chr12:123634424-123637372	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:123627000-123634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:123631200-123634800	Transcr. at gene 5' and 3'	Thymus	Thymus
3	chr12:123632600-123634800	Enhancers	Spleen	Spleen
4	chr12:123633600-123634800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:123633800-123634800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr12:123633800-123634800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:123633800-123634800	Flanking Active TSS	K562	blood
8	chr12:123633800-123635000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr12:123633800-123635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:123633800-123635000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr12:123633800-123635000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:123633800-123635000	Enhancers	Fetal Brain Male	brain
13	chr12:123633800-123635200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:123633800-123635200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr12:123633800-123636000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:123633800-123636200	Active TSS	NHLF	lung
17	chr12:123633800-123636400	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:123633800-123636600	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr12:123634000-123634800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr12:123634000-123634800	Flanking Active TSS	Fetal Heart	heart
21	chr12:123634000-123634800	Flanking Active TSS	HSMM	muscle
22	chr12:123634000-123635000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:123634000-123635000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr12:123634000-123635000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:123634000-123635000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr12:123634000-123635000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr12:123634000-123635000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr12:123634000-123635000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr12:123634000-123635200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr12:123634000-123635200	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr12:123634000-123635200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr12:123634000-123635200	Flanking Bivalent TSS/Enh	Dnd41	blood
33	chr12:123634000-123636000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:123634000-123636400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr12:123634200-123634800	Flanking Active TSS	Fetal Brain Female	brain
36	chr12:123634200-123634800	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr12:123634200-123635000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr12:123634200-123635000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:123634200-123635000	Flanking Active TSS	Lung	lung
40	chr12:123634200-123635000	Flanking Active TSS	Right Ventricle	heart
41	chr12:123634200-123635000	Flanking Active TSS	HMEC	breast
42	chr12:123634200-123636400	Active TSS	Brain Anterior Caudate	brain
43	chr12:123634400-123634800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr12:123634400-123634800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:123634400-123634800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:123634400-123634800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr12:123634400-123634800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:123634400-123634800	Flanking Active TSS	Fetal Lung	lung
49	chr12:123634400-123634800	Flanking Active TSS	Pancreas	Pancrea
50	chr12:123634400-123634800	Flanking Active TSS	HSMMtube	muscle

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