Variant report

Variant	rs546340269
Chromosome Location	chr12:123634900-123634901
allele	A/G
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	YY1	chr12:123634704-123635232	HepG2	liver:	n/a	chr12:123634955-123634966
2	POLR2A	chr12:123634877-123635180	H1-neurons	neurons:	n/a	n/a
3	UBTF	chr12:123634016-123635929	K562	blood:	n/a	n/a
4	CCNT2	chr12:123634810-123636248	K562	blood:	n/a	chr12:123634810-123634819
5	MAZ	chr12:123634804-123635000	Hela-S3	cervix:	n/a	n/a
6	E2F6	chr12:123634714-123635201	K562	blood:	n/a	chr12:123634869-123634881 chr12:123635154-123635164
7	MAX	chr12:123634385-123635947	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
8	GATA1	chr12:123632620-123635248	K562	blood:	n/a	n/a
9	MAX	chr12:123634811-123635188	ECC-1	luminal epithelium:	n/a	chr12:123635004-123635011 chr12:123635000-123635009
10	E2F6	chr12:123634835-123635861	K562	blood:	n/a	chr12:123634869-123634881 chr12:123635154-123635164 chr12:123635755-123635764 chr12:123635494-123635504
11	POLR2A	chr12:123634850-123637088	K562	blood:	n/a	n/a
12	CTCF	chr12:123634644-123636349	SK-N-SH	brain:	n/a	chr12:123635144-123635157 chr12:123636264-123636273
13	ZBTB7A	chr12:123634598-123635237	ECC-1	luminal epithelium:	n/a	chr12:123634780-123634789
14	POLR2A	chr12:123634888-123635418	HUVEC	blood vessel:	n/a	n/a
15	UBTF	chr12:123633939-123636396	K562	blood:	n/a	n/a
16	POLR2A	chr12:123634860-123635157	A549	lung:	n/a	n/a
17	POLR2A	chr12:123634894-123635142	HepG2	liver:	n/a	n/a
18	SMARCB1	chr12:123634476-123635327	Hela-S3	cervix:	n/a	n/a
19	ZBTB7A	chr12:123634326-123635981	K562	blood:	n/a	chr12:123634780-123634789
20	ZBTB7A	chr12:123634603-123635347	ECC-1	luminal epithelium:	n/a	chr12:123634780-123634789
21	MAX	chr12:123634713-123636081	K562	blood:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
22	MXI1	chr12:123634450-123636293	IMR90	lung:	n/a	n/a
23	SIN3A	chr12:123634685-123635188	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr12:123634264-123636428	A549	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
25	NFIC	chr12:123634811-123635302	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr12:123634723-123636549	IMR90	lung:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
27	POLR2A	chr12:123634307-123636312	A549	lung:	n/a	n/a
28	MAX	chr12:123634319-123636247	HepG2	liver:	n/a	chr12:123635502-123635517 chr12:123635004-123635011 chr12:123635756-123635766 chr12:123635000-123635009
29	BACH1	chr12:123634748-123634916	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr12:123634685-123635745	H1-hESC	embryonic stem cell:	n/a	chr12:123634869-123634881 chr12:123635154-123635164 chr12:123635494-123635504
31	ZNF263	chr12:123633201-123635347	HEK293-T-REx	kidney:	n/a	chr12:123635122-123635131 chr12:123634374-123634395
32	HMGN3	chr12:123634697-123636305	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
2	chr12:123527678..123528658-chr12:123634881..123635709,3	MCF-7	breast:
3	chr12:123517171..123520609-chr12:123634791..123638617,3	K562	blood:
4	chr12:123617700..123620555-chr12:123634870..123636855,3	MCF-7	breast:
5	chr12:123575945..123576658-chr12:123634764..123635731,2	K562	blood:
6	chr12:123634768..123637262-chr12:124085657..124088192,2	K562	blood:
7	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
8	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
9	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
10	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
11	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
12	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
13	chr12:123633368..123635688-chr12:123701614..123704544,2	MCF-7	breast:
14	chr12:123634793..123637876-chr12:123640152..123646460,6	MCF-7	breast:
15	chr12:123463900..123466022-chr12:123633750..123636695,4	K562	blood:
16	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
17	chr12:123588003..123590511-chr12:123634129..123636612,2	MCF-7	breast:

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000130787	Chromatin interaction
ENSG00000182196	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111325	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123633800-123635000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr12:123633800-123635000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:123633800-123635000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr12:123633800-123635000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr12:123633800-123635000	Enhancers	Fetal Brain Male	brain
6	chr12:123633800-123635200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr12:123633800-123635200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr12:123633800-123636000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:123633800-123636200	Active TSS	NHLF	lung
10	chr12:123633800-123636400	Active TSS	Brain Cingulate Gyrus	brain
11	chr12:123633800-123636600	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:123634000-123635000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:123634000-123635000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr12:123634000-123635000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:123634000-123635000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr12:123634000-123635000	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr12:123634000-123635000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr12:123634000-123635000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr12:123634000-123635200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:123634000-123635200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr12:123634000-123635200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr12:123634000-123635200	Flanking Bivalent TSS/Enh	Dnd41	blood
23	chr12:123634000-123636000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:123634000-123636400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:123634200-123635000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:123634200-123635000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:123634200-123635000	Flanking Active TSS	Lung	lung
28	chr12:123634200-123635000	Flanking Active TSS	Right Ventricle	heart
29	chr12:123634200-123635000	Flanking Active TSS	HMEC	breast
30	chr12:123634200-123636400	Active TSS	Brain Anterior Caudate	brain
31	chr12:123634400-123635000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:123634400-123635000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr12:123634400-123635000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:123634400-123635000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:123634400-123635000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr12:123634400-123635000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:123634400-123635000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:123634400-123635000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:123634400-123635000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr12:123634400-123635000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr12:123634400-123635000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr12:123634400-123635000	Flanking Active TSS	Fetal Thymus	thymus
43	chr12:123634400-123635000	Flanking Active TSS	HUVEC	blood vessel
44	chr12:123634400-123635000	Flanking Active TSS	NH-A	brain
45	chr12:123634400-123635200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr12:123634400-123635200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:123634400-123635200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
48	chr12:123634400-123635200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:123634400-123635200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:123634400-123635200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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