Variant report

Variant	rs563119381
Chromosome Location	chr12:10874419-10874420
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	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	MXI1	chr12:10874405-10875453	H1-hESC	embryonic stem cell:	n/a	n/a
12	STAT3	chr12:10874223-10875105	MCF10A-Er-Src	breast:	n/a	chr12:10874813-10874833
13	CREB1	chr12:10874263-10875349	GM12878	blood:	n/a	n/a
14	JUND	chr12:10874376-10875007	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr12:10874294-10875565	K562	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
16	MAX	chr12:10874394-10875568	H1-hESC	embryonic stem cell:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
17	STAT3	chr12:10874327-10875045	Hela-S3	cervix:	n/a	chr12:10874813-10874833
18	FOSL2	chr12:10874377-10875369	A549	lung:	n/a	n/a
19	TBP	chr12:10873842-10875324	GM12878	blood:	n/a	n/a
20	CHD2	chr12:10874044-10875308	GM12878	blood:	n/a	n/a
21	MAX	chr12:10874173-10875570	NB4	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
22	CHD2	chr12:10874325-10876270	Hela-S3	cervix:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
23	ATF2	chr12:10874237-10874999	GM12878	blood:	n/a	n/a
24	GABPA	chr12:10874412-10874973	A549	lung:	n/a	n/a
25	POLR2A	chr12:10874318-10875531	SK-N-MC	brain:	n/a	n/a
26	BCLAF1	chr12:10874357-10875472	GM12878	blood:	n/a	chr12:10875417-10875430
27	SIN3AK20	chr12:10874239-10875336	A549	lung:	n/a	n/a
28	TBL1XR1	chr12:10874325-10875018	K562	blood:	n/a	n/a
29	MTA3	chr12:10874156-10875528	GM12878	blood:	n/a	n/a
30	TBP	chr12:10874277-10875178	Hela-S3	cervix:	n/a	n/a
31	MAX	chr12:10874257-10875593	HCT-116	colon:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
32	POLR2A	chr12:10874405-10875061	PANC-1	pancreas:	n/a	n/a
33	CHD1	chr12:10874227-10876129	GM12878	blood:	n/a	chr12:10876048-10876055 chr12:10875983-10875993
34	USF2	chr12:10874304-10875229	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr12:10874233-10875385	A549	lung:	n/a	n/a
36	MAX	chr12:10874216-10875662	HCT-116	colon:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
37	POLR2A	chr12:10874389-10876322	GM19193	blood:	n/a	n/a
38	MYC	chr12:10874239-10876043	K562	blood:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708 chr12:10875807-10875817
39	RFX5	chr12:10874308-10874881	GM12878	blood:	n/a	chr12:10874627-10874644
40	POLR2A	chr12:10872946-10877224	IMR90	lung:	n/a	n/a
41	POLR2A	chr12:10874239-10875536	U87	brain:	n/a	n/a
42	MAX	chr12:10874350-10875579	MCF-7	breast:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
43	MAX	chr12:10874302-10875675	ECC-1	luminal epithelium:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
44	POLR2A	chr12:10874233-10875536	U87	brain:	n/a	n/a
45	SMC3	chr12:10874381-10875016	HepG2	liver:	n/a	n/a
46	MAX	chr12:10874249-10875628	A549	lung:	n/a	chr12:10874700-10874707 chr12:10875039-10875048 chr12:10874699-10874709 chr12:10874699-10874708
47	POLR2A	chr12:10874318-10876018	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:10874414-10875046	Gliobla	brain:	n/a	n/a
49	EBF1	chr12:10873792-10875595	GM12878	blood:	n/a	chr12:10875317-10875328 chr12:10875299-10875310
50	ZNF384	chr12:10874347-10875084	GM12878	blood:	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
ENSG00000256888	Chromatin interaction
ENSG00000111196	Chromatin interaction
ENSG00000060138	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10862800-10874600	Weak transcription	Spleen	Spleen
2	chr12:10869000-10874600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:10870400-10877000	Active TSS	Psoas Muscle	Psoas
4	chr12:10871200-10876400	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr12:10871400-10877000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:10871800-10874600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:10872400-10875000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:10872400-10876200	Active TSS	Brain Hippocampus Middle	brain
9	chr12:10872400-10876800	Active TSS	Right Ventricle	heart
10	chr12:10872400-10877000	Active TSS	Right Atrium	heart
11	chr12:10872600-10876200	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr12:10872800-10874600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:10872800-10874600	Flanking Active TSS	Hela-S3	cervix
14	chr12:10873000-10875000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr12:10873000-10875200	Active TSS	Thymus	Thymus
16	chr12:10873000-10876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:10873000-10876600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:10873000-10876600	Active TSS	HSMMtube	muscle
19	chr12:10873000-10876800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:10873000-10876800	Active TSS	Aorta	Aorta
21	chr12:10873200-10874800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:10873200-10876200	Active TSS	Stomach Smooth Muscle	stomach
23	chr12:10873200-10876600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr12:10873200-10877000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:10873600-10874600	Flanking Active TSS	Stomach Mucosa	stomach
26	chr12:10873600-10874800	Active TSS	Brain Cingulate Gyrus	brain
27	chr12:10873600-10875000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:10873600-10875200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:10873600-10875200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:10873600-10875400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:10873600-10875400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:10873600-10875400	Flanking Active TSS	Dnd41	blood
33	chr12:10873600-10875600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr12:10873600-10876200	Active TSS	A549	lung
35	chr12:10873600-10876400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:10873600-10876600	Active TSS	Left Ventricle	heart
37	chr12:10873600-10876600	Active TSS	Lung	lung
38	chr12:10873600-10876800	Active TSS	Fetal Muscle Trunk	muscle
39	chr12:10873800-10874600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:10873800-10874600	Active TSS	Liver	Liver
41	chr12:10873800-10874600	Flanking Active TSS	Fetal Heart	heart
42	chr12:10873800-10874800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:10873800-10876400	Active TSS	Placenta Amnion	Placenta Amnion
44	chr12:10873800-10876400	Active TSS	NHLF	lung
45	chr12:10873800-10876600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:10873800-10876600	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr12:10873800-10876600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:10873800-10876600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:10873800-10876600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:10873800-10876600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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