Variant report

Variant	rs537268310
Chromosome Location	chr12:10874399-10874400
allele	-/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	KAP1	chr12:10873627-10875127	U2OS	brain:	n/a	n/a
2	MAX	chr12:10874211-10875587	ECC-1	luminal epithelium:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
3	ELK1	chr12:10874358-10875190	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:10874324-10875006	GM12891	blood:	n/a	n/a
5	RCOR1	chr12:10874288-10875604	K562	blood:	n/a	n/a
6	TCF12	chr12:10874344-10874917	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:10874213-10876151	GM12878	blood:	n/a	n/a
8	MAX	chr12:10874293-10876358	GM12878	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708 chr12:10875807-10875817
9	RCOR1	chr12:10874327-10875480	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:10874260-10875525	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT3	chr12:10874223-10875105	MCF10A-Er-Src	breast:	n/a	chr12:10874813-10874833
12	CREB1	chr12:10874263-10875349	GM12878	blood:	n/a	n/a
13	JUND	chr12:10874376-10875007	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr12:10874294-10875565	K562	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
15	MAX	chr12:10874394-10875568	H1-hESC	embryonic stem cell:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
16	STAT3	chr12:10874327-10875045	Hela-S3	cervix:	n/a	chr12:10874813-10874833
17	FOSL2	chr12:10874377-10875369	A549	lung:	n/a	n/a
18	TBP	chr12:10873842-10875324	GM12878	blood:	n/a	n/a
19	CHD2	chr12:10874044-10875308	GM12878	blood:	n/a	n/a
20	MAX	chr12:10874173-10875570	NB4	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
21	CHD2	chr12:10874325-10876270	Hela-S3	cervix:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
22	ATF2	chr12:10874237-10874999	GM12878	blood:	n/a	n/a
23	POLR2A	chr12:10874318-10875531	SK-N-MC	brain:	n/a	n/a
24	BCLAF1	chr12:10874357-10875472	GM12878	blood:	n/a	chr12:10875417-10875430
25	SIN3AK20	chr12:10874239-10875336	A549	lung:	n/a	n/a
26	TBL1XR1	chr12:10874325-10875018	K562	blood:	n/a	n/a
27	MTA3	chr12:10874156-10875528	GM12878	blood:	n/a	n/a
28	TBP	chr12:10874277-10875178	Hela-S3	cervix:	n/a	n/a
29	MAX	chr12:10874257-10875593	HCT-116	colon:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
30	CHD1	chr12:10874227-10876129	GM12878	blood:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
31	USF2	chr12:10874304-10875229	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr12:10874233-10875385	A549	lung:	n/a	n/a
33	MAX	chr12:10874216-10875662	HCT-116	colon:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
34	POLR2A	chr12:10874389-10876322	GM19193	blood:	n/a	n/a
35	MYC	chr12:10874239-10876043	K562	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708 chr12:10875807-10875817
36	RFX5	chr12:10874308-10874881	GM12878	blood:	n/a	chr12:10874627-10874644
37	POLR2A	chr12:10872946-10877224	IMR90	lung:	n/a	n/a
38	POLR2A	chr12:10874239-10875536	U87	brain:	n/a	n/a
39	MAX	chr12:10874350-10875579	MCF-7	breast:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
40	MAX	chr12:10874302-10875675	ECC-1	luminal epithelium:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
41	POLR2A	chr12:10874233-10875536	U87	brain:	n/a	n/a
42	SMC3	chr12:10874381-10875016	HepG2	liver:	n/a	n/a
43	MAX	chr12:10874249-10875628	A549	lung:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
44	POLR2A	chr12:10874318-10876018	GM12878	blood:	n/a	n/a
45	EBF1	chr12:10873792-10875595	GM12878	blood:	n/a	chr12:10875317-10875328 chr12:10875299-10875310
46	ZNF384	chr12:10874347-10875084	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:10874224-10876465	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr12:10874347-10875485	A549	lung:	n/a	chr12:10874829-10874842 chr12:10874829-10874840
49	SPI1	chr12:10874240-10874403	K562	blood:	n/a	chr12:10874317-10874330 chr12:10874316-10874329 chr12:10874319-10874328
50	POLR2A	chr12:10873768-10876432	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:10862390..10866063-chr12:10873354..10875094,3	K562	blood:
2	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
3	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:
4	chr12:10873260..10876044-chr19:39898902..39901663,2	K562	blood:
5	chr12:10873685..10876806-chr12:10901229..10904377,4	K562	blood:
6	chr12:10870598..10876467-chr12:10900594..10904029,6	MCF-7	breast:
7	chr12:10860643..10864098-chr12:10874178..10877210,3	MCF-7	breast:
8	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
9	chr12:10859983..10863988-chr12:10873380..10877073,5	MCF-7	breast:
10	chr12:10872352..10877950-chr12:10900438..10904327,7	K562	blood:

Variant related genes	Relation type
YBX3	TF binding region
ENSG00000060138	Chromatin interaction
ENSG00000256888	Chromatin interaction
ENSG00000111196	Chromatin interaction
ENSG00000266559	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3423079	chr12:10874310-10876858	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10862800-10874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10862800-10874600	Weak transcription	Spleen	Spleen
3	chr12:10868600-10874400	Flanking Active TSS	HUVEC	blood vessel
4	chr12:10869000-10874600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:10870400-10877000	Active TSS	Psoas Muscle	Psoas
6	chr12:10871200-10876400	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr12:10871400-10877000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:10871800-10874600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:10872400-10875000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:10872400-10876200	Active TSS	Brain Hippocampus Middle	brain
11	chr12:10872400-10876800	Active TSS	Right Ventricle	heart
12	chr12:10872400-10877000	Active TSS	Right Atrium	heart
13	chr12:10872600-10876200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:10872800-10874600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:10872800-10874600	Flanking Active TSS	Hela-S3	cervix
16	chr12:10873000-10875000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr12:10873000-10875200	Active TSS	Thymus	Thymus
18	chr12:10873000-10876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:10873000-10876600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:10873000-10876600	Active TSS	HSMMtube	muscle
21	chr12:10873000-10876800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:10873000-10876800	Active TSS	Aorta	Aorta
23	chr12:10873200-10874400	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr12:10873200-10874800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr12:10873200-10876200	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:10873200-10876600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr12:10873200-10877000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:10873400-10874400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr12:10873600-10874400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:10873600-10874400	Flanking Active TSS	Osteobl	bone
31	chr12:10873600-10874600	Flanking Active TSS	Stomach Mucosa	stomach
32	chr12:10873600-10874800	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:10873600-10875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:10873600-10875200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr12:10873600-10875200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:10873600-10875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:10873600-10875400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr12:10873600-10875400	Flanking Active TSS	Dnd41	blood
39	chr12:10873600-10875600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr12:10873600-10876200	Active TSS	A549	lung
41	chr12:10873600-10876400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:10873600-10876600	Active TSS	Left Ventricle	heart
43	chr12:10873600-10876600	Active TSS	Lung	lung
44	chr12:10873600-10876800	Active TSS	Fetal Muscle Trunk	muscle
45	chr12:10873800-10874400	Active TSS	Brain Angular Gyrus	brain
46	chr12:10873800-10874400	Flanking Active TSS	Fetal Lung	lung
47	chr12:10873800-10874600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:10873800-10874600	Active TSS	Liver	Liver
49	chr12:10873800-10874600	Flanking Active TSS	Fetal Heart	heart
50	chr12:10873800-10874800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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