Variant report

Variant	rs59711560
Chromosome Location	chr12:57026292-57026293
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	EBF1	chr12:57026178-57026482	GM12878	blood:	n/a	n/a
2	EGR1	chr12:57026114-57026520	K562	blood:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
3	EGR1	chr12:57026160-57026391	GM12878	blood:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
4	GATA3	chr12:57026018-57026502	T-47D	breast:	n/a	n/a
5	CHD2	chr12:57026158-57026536	GM12878	blood:	n/a	n/a
6	MXI1	chr12:57026181-57026381	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:57026019-57026424	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:57026213-57026370	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr12:57026264-57026339	MCF-7	breast:	n/a	n/a
10	STAT1	chr12:57025712-57026393	GM12878	blood:	n/a	chr12:57025786-57025797 chr12:57025791-57025803
11	MAZ	chr12:57026003-57026813	IMR90	lung:	n/a	chr12:57026377-57026386
12	POLR2A	chr12:57025989-57026390	ECC-1	luminal epithelium:	n/a	n/a
13	RELA	chr12:57025661-57026570	GM18951	blood:	n/a	n/a
14	HMGN3	chr12:57026154-57026409	K562	blood:	n/a	n/a
15	STAT5A	chr12:57025719-57026666	GM12878	blood:	n/a	chr12:57025786-57025797 chr12:57025791-57025803
16	EP300	chr12:57026020-57026606	T-47D	breast:	n/a	n/a
17	EGR1	chr12:57025980-57026576	ECC-1	luminal epithelium:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
18	RUNX3	chr12:57025552-57026701	GM12878	blood:	n/a	n/a
19	NFIC	chr12:57025531-57026401	GM12878	blood:	n/a	n/a
20	EBF1	chr12:57025643-57027099	GM12878	blood:	n/a	chr12:57026836-57026849 chr12:57026838-57026847 chr12:57026836-57026847
21	ZEB1	chr12:57026056-57026450	GM12878	blood:	n/a	n/a
22	RCOR1	chr12:57026171-57026410	K562	blood:	n/a	n/a
23	UBTF	chr12:57026203-57026403	K562	blood:	n/a	n/a
24	BACH1	chr12:57026099-57026506	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAZ	chr12:57026150-57026440	Hela-S3	cervix:	n/a	chr12:57026377-57026386
26	NR2F2	chr12:57025653-57026445	K562	blood:	n/a	n/a
27	MYC	chr12:57026141-57026330	K562	blood:	n/a	n/a
28	EGR1	chr12:57025869-57026692	HCT-116	colon:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
29	FOXA1	chr12:57026154-57026477	T-47D	breast:	n/a	n/a
30	POLR2A	chr12:57026171-57026436	HCT-116	colon:	n/a	n/a
31	IKZF1	chr12:57025412-57026314	GM12878	blood:	n/a	n/a
32	MAX	chr12:57026176-57026351	NB4	blood:	n/a	n/a
33	EGR1	chr12:57026038-57026581	ECC-1	luminal epithelium:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
34	EGR1	chr12:57026120-57026486	K562	blood:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
35	ELF1	chr12:57026123-57026473	GM12878	blood:	n/a	n/a
36	MTA3	chr12:57025282-57026862	GM12878	blood:	n/a	n/a
37	ELF1	chr12:57026119-57026501	K562	blood:	n/a	n/a
38	POLR2A	chr12:57026033-57026439	K562	blood:	n/a	n/a
39	EGR1	chr12:57026152-57026431	GM12878	blood:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
40	POLR2A	chr12:57026054-57026472	HCT-116	colon:	n/a	n/a
41	POLR2A	chr12:57025342-57026677	GM12878	blood:	n/a	n/a
42	MAZ	chr12:57025630-57026639	K562	blood:	n/a	chr12:57026377-57026386
43	CHD2	chr12:57026175-57026369	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:57025828-57026500	SK-N-MC	brain:	n/a	n/a
45	ELF1	chr12:57026002-57026576	MCF-7	breast:	n/a	n/a
46	ELF1	chr12:57026129-57026445	HepG2	liver:	n/a	n/a
47	EGR1	chr12:57026005-57026587	MCF-7	breast:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
48	EGR1	chr12:57025892-57026654	HCT-116	colon:	n/a	chr12:57026336-57026358 chr12:57026341-57026354 chr12:57026273-57026284 chr12:57026269-57026283
49	FOXP2	chr12:57026181-57026429	PFSK-1	brain:	n/a	n/a
50	ZNF143	chr12:57026131-57026345	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57026160..57032326-chr12:57079667..57084551,17	K562	blood:
2	chr12:56497194..56499592-chr12:57025012..57027087,2	MCF-7	breast:
3	chr12:57010005..57012841-chr12:57025383..57028519,3	K562	blood:
4	chr12:57003031..57005740-chr12:57025787..57027791,2	MCF-7	breast:
5	chr12:57022951..57032187-chr12:57113330..57121462,17	K562	blood:
6	chr12:57024284..57028695-chr12:57112563..57115410,4	K562	blood:
7	chr12:56997043..57002825-chr12:57025405..57031317,7	MCF-7	breast:
8	chr12:57022951..57026800-chr12:57117756..57120478,4	K562	blood:
9	chr12:57025967..57028369-chr12:57109076..57111615,2	K562	blood:
10	chr12:57023932..57026516-chr12:57081163..57083127,2	MCF-7	breast:
11	chr12:57010005..57012841-chr12:57024813..57028519,3	K562	blood:

Variant related genes	Relation type
BAZ2A	TF binding region
ENSG00000170515	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000076108	Chromatin interaction

rs_ID	r²[population]
rs10876912	1.00[EUR][1000 genomes]
rs11171909	1.00[EUR][1000 genomes]
rs11171910	1.00[EUR][1000 genomes]
rs11831054	0.84[EUR][1000 genomes]
rs12296335	0.86[EUR][1000 genomes]
rs12312913	1.00[EUR][1000 genomes]
rs12314491	1.00[EUR][1000 genomes]
rs12321649	1.00[EUR][1000 genomes]
rs1527140	1.00[EUR][1000 genomes]
rs17118865	0.84[EUR][1000 genomes]
rs17118901	0.84[EUR][1000 genomes]
rs1800638	0.84[EUR][1000 genomes]
rs57406430	0.84[EUR][1000 genomes]
rs7136370	0.84[EUR][1000 genomes]
rs7307578	0.84[EUR][1000 genomes]
rs74091637	0.84[EUR][1000 genomes]
rs74095026	0.84[EUR][1000 genomes]
rs7954160	0.84[EUR][1000 genomes]
rs7958515	0.84[EUR][1000 genomes]
rs7958539	0.81[EUR][1000 genomes]
rs7974103	0.84[EUR][1000 genomes]
rs7974600	0.84[EUR][1000 genomes]
rs7977632	0.84[EUR][1000 genomes]
rs941210	1.00[EUR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57024000-57028000	Enhancers	Stomach Mucosa	stomach
2	chr12:57024200-57027600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:57024200-57027800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:57024400-57026400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:57024400-57026800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:57024400-57026800	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:57024400-57027400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:57024400-57027800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:57024400-57027800	Enhancers	Placenta	Placenta
10	chr12:57024400-57028000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:57024400-57028000	Enhancers	Small Intestine	intestine
12	chr12:57024400-57028000	Enhancers	Spleen	Spleen
13	chr12:57024600-57026400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:57024600-57026400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:57024600-57026400	Enhancers	Colon Smooth Muscle	Colon
16	chr12:57024600-57026400	Enhancers	NHDF-Ad	bronchial
17	chr12:57024600-57026800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:57024600-57027800	Enhancers	Primary T cells from cord blood	blood
19	chr12:57024600-57028000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:57024600-57028000	Enhancers	Fetal Lung	lung
21	chr12:57024600-57028000	Enhancers	Lung	lung
22	chr12:57024800-57026400	Enhancers	Adipose Nuclei	Adipose
23	chr12:57024800-57026400	Enhancers	HepG2	liver
24	chr12:57024800-57026600	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:57024800-57027800	Enhancers	Brain Substantia Nigra	brain
26	chr12:57024800-57027800	Enhancers	Dnd41	blood
27	chr12:57024800-57028000	Enhancers	Brain Angular Gyrus	brain
28	chr12:57025200-57028000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:57025200-57028400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:57025400-57027200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:57025400-57027600	Flanking Active TSS	Thymus	Thymus
32	chr12:57025400-57027600	Flanking Active TSS	GM12878-XiMat	blood
33	chr12:57025400-57027800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:57025400-57028000	Enhancers	Fetal Heart	heart
35	chr12:57025400-57028000	Enhancers	HUVEC	blood vessel
36	chr12:57025400-57028400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr12:57025400-57030600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:57025400-57031400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:57025600-57026400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:57025600-57026800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr12:57025600-57026800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:57025600-57027000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr12:57025600-57027000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr12:57025600-57027200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:57025600-57027200	Enhancers	Gastric	stomach
46	chr12:57025600-57027200	Enhancers	Ovary	ovary
47	chr12:57025600-57027200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:57025600-57027600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:57025600-57027800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:57025600-57027800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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