Variant report

Variant	rs548414112
Chromosome Location	chr11:58346195-58346196
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	chr11:58345644-58346272	A549	lung:	n/a	chr11:58345957-58345979 chr11:58345957-58345967 chr11:58345957-58345967
2	SIN3A	chr11:58345062-58346469	GM12878	blood:	n/a	n/a
3	ZBTB33	chr11:58345872-58346574	GM12878	blood:	n/a	chr11:58346266-58346276 chr11:58346341-58346350 chr11:58346336-58346351 chr11:58346391-58346398
4	POLR2A	chr11:58345219-58347405	MCF-7	breast:	n/a	n/a
5	FOXM1	chr11:58344461-58346574	GM12878	blood:	n/a	chr11:58344711-58344719
6	ARID3A	chr11:58344557-58346338	HepG2	liver:	n/a	n/a
7	YY1	chr11:58345351-58346488	HCT-116	colon:	n/a	chr11:58345957-58345979 chr11:58345957-58345967 chr11:58345957-58345967
8	ZNF143	chr11:58345173-58346806	Hela-S3	cervix:	n/a	chr11:58346060-58346070 chr11:58345862-58345880 chr11:58345869-58345884 chr11:58346608-58346618 chr11:58345866-58345885 chr11:58346301-58346320
9	POLR2A	chr11:58342402-58348892	K562	blood:	n/a	n/a
10	CTCF	chr11:58346140-58346290	HepG2	liver:	n/a	n/a
11	GTF2F1	chr11:58345007-58346518	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr11:58345184-58346464	K562	blood:	n/a	n/a
13	GTF2F1	chr11:58345351-58346500	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:58343758-58347552	GM12892	blood:	n/a	n/a
15	MYC	chr11:58345064-58347619	K562	blood:	n/a	chr11:58346672-58346682 chr11:58346577-58346587 chr11:58346587-58346597
16	POLR2A	chr11:58345013-58347479	GM12878	blood:	n/a	n/a
17	SPI1	chr11:58346007-58346377	GM12878	blood:	n/a	n/a
18	RCOR1	chr11:58344637-58346517	GM12878	blood:	n/a	n/a
19	TCF12	chr11:58344728-58346719	SK-N-SH	brain:	n/a	n/a
20	MXI1	chr11:58344695-58348006	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:58342757-58347555	Raji	blood:	n/a	n/a
22	POLR2A	chr11:58344110-58347672	GM12891	blood:	n/a	n/a
23	NFYB	chr11:58345358-58346632	Hela-S3	cervix:	n/a	chr11:58346422-58346434 chr11:58346511-58346526 chr11:58346419-58346433 chr11:58346420-58346433 chr11:58346512-58346526 chr11:58346421-58346431 chr11:58346418-58346433 chr11:58346511-58346526 chr11:58346420-58346435 chr11:58346418-58346433
24	POLR2A	chr11:58344385-58347544	HepG2	liver:	n/a	n/a
25	IRF1	chr11:58344897-58346571	K562	blood:	n/a	chr11:58346482-58346496 chr11:58346422-58346431 chr11:58345078-58345094
26	E2F6	chr11:58346133-58346584	H1-hESC	embryonic stem cell:	n/a	chr11:58346422-58346431
27	TAL1	chr11:58344920-58346607	K562	blood:	n/a	chr11:58345180-58345189
28	POLR2A	chr11:58345035-58347495	HepG2	liver:	n/a	n/a
29	ATF2	chr11:58345615-58346559	H1-hESC	embryonic stem cell:	n/a	n/a
30	POU2F2	chr11:58345998-58346494	GM12878	blood:	n/a	n/a
31	EBF1	chr11:58344670-58346565	GM12878	blood:	n/a	n/a
32	RAD21	chr11:58344410-58346282	IMR90	lung:	n/a	n/a
33	ETS1	chr11:58345205-58346706	A549	lung:	n/a	chr11:58346341-58346350 chr11:58345715-58345732 chr11:58346412-58346423 chr11:58346672-58346683 chr11:58345860-58345873 chr11:58346265-58346274 chr11:58346390-58346399 chr11:58346587-58346598
34	MYC	chr11:58345115-58347601	K562	blood:	n/a	chr11:58346672-58346682 chr11:58346577-58346587 chr11:58346587-58346597
35	FOXP2	chr11:58346165-58346583	SK-N-MC	brain:	n/a	n/a
36	SP2	chr11:58346178-58346600	HepG2	liver:	n/a	chr11:58346513-58346523 chr11:58346432-58346447
37	REST	chr11:58345945-58346332	A549	lung:	n/a	chr11:58346278-58346291
38	POLR2A	chr11:58344854-58347550	GM19193	blood:	n/a	n/a
39	NR2C2	chr11:58345338-58346487	HepG2	liver:	n/a	chr11:58345712-58345721
40	MBD4	chr11:58345829-58346445	HepG2	liver:	n/a	n/a
41	NFATC1	chr11:58344545-58346566	GM12878	blood:	n/a	n/a
42	TBP	chr11:58345082-58346536	H1-hESC	embryonic stem cell:	n/a	n/a
43	STAT5A	chr11:58344726-58346397	GM12878	blood:	n/a	n/a
44	STAT3	chr11:58344577-58346321	GM12878	blood:	n/a	n/a
45	NR2C2	chr11:58345175-58346516	Hela-S3	cervix:	n/a	chr11:58345712-58345721
46	MAX	chr11:58345165-58347620	ECC-1	luminal epithelium:	n/a	chr11:58346672-58346682 chr11:58346577-58346587 chr11:58346587-58346597
47	MAFK	chr11:58345318-58346455	HepG2	liver:	n/a	n/a
48	RCOR1	chr11:58345079-58346478	K562	blood:	n/a	n/a
49	MYC	chr11:58344556-58348161	K562	blood:	n/a	chr11:58346672-58346682 chr11:58346577-58346587 chr11:58346587-58346597
50	FOS	chr11:58344540-58346391	MCF10A-Er-Src	breast:	n/a	chr11:58345782-58345792 chr11:58346257-58346266 chr11:58345783-58345791

No.	Distal block	Cell Line	Cell type
1	chr11:58345242..58347401-chr14:50233763..50235368,2	MCF-7	breast:
2	chr11:58341513..58344415-chr11:58344785..58347272,2	MCF-7	breast:
3	chr11:58345634..58347329-chr11:58913905..58915748,2	MCF-7	breast:
4	chr11:58345286..58347963-chr11:58389614..58393452,3	MCF-7	breast:
5	chr11:57434798..57437115-chr11:58345701..58348083,4	MCF-7	breast:
6	chr11:58345920..58346638-chr17:26988735..26989426,3	Hela-S3	cervix:
7	chr1:37939974..37940671-chr11:58346171..58346779,2	Hela-S3	cervix:
8	chr11:57433251..57437103-chr11:58344962..58348416,5	K562	blood:
9	chr11:57297015..57298977-chr11:58345779..58348496,3	K562	blood:
10	chr11:57423476..57425127-chr11:58344978..58347964,2	K562	blood:
11	chr11:58345815..58346705-chr19:45971168..45971770,2	Hela-S3	cervix:
12	chr11:58343669..58348848-chr11:58387112..58391418,8	K562	blood:
13	chr11:58345131..58348848-chr11:58387112..58390850,4	K562	blood:
14	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:

Variant related genes	Relation type
ZFP91-CNTF	TF binding region
LPXN	TF binding region
ZFP91	TF binding region
ENSG00000242689	Chromatin interaction
ENSG00000165516	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000125740	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000166801	Chromatin interaction
ENSG00000163874	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000233621	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv528190	chr11:58336620-58347765	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
3	esv3400270	chr11:58345401-58348249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58343800-58347800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:58344000-58347800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:58344200-58346400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:58344200-58348200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:58344400-58346400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:58344400-58347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:58344400-58347800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr11:58344400-58347800	Active TSS	Aorta	Aorta
9	chr11:58344400-58348000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:58344400-58348000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr11:58344400-58348000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr11:58344400-58348000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:58344400-58348200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:58344400-58348400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:58344400-58349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:58344400-58349400	Active TSS	K562	blood
17	chr11:58344600-58346600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:58344600-58347200	Active TSS	Rectal Smooth Muscle	rectum
19	chr11:58344600-58347800	Active TSS	Brain Cingulate Gyrus	brain
20	chr11:58344600-58348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr11:58344600-58348000	Active TSS	Brain Angular Gyrus	brain
22	chr11:58344600-58348000	Active TSS	Colonic Mucosa	Colon
23	chr11:58344600-58348000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:58344600-58348000	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr11:58344600-58348000	Active TSS	HSMM	muscle
26	chr11:58344600-58348000	Active TSS	NHDF-Ad	bronchial
27	chr11:58344600-58348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:58344600-58348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:58344600-58348200	Active TSS	Fetal Intestine Small	intestine
30	chr11:58344600-58348400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:58344600-58348400	Active TSS	NHLF	lung
32	chr11:58344600-58348600	Active TSS	Psoas Muscle	Psoas
33	chr11:58344600-58348800	Active TSS	GM12878-XiMat	blood
34	chr11:58344600-58349000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr11:58344600-58349000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:58344600-58350000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:58344800-58347400	ZNF genes & repeats	Fetal Brain Male	brain
38	chr11:58344800-58347600	Active TSS	Left Ventricle	heart
39	chr11:58344800-58347600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:58344800-58347600	Active TSS	Stomach Mucosa	stomach
41	chr11:58344800-58347800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:58344800-58347800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:58344800-58347800	Active TSS	Dnd41	blood
44	chr11:58344800-58348000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:58344800-58348200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr11:58344800-58348200	Active TSS	A549	lung
47	chr11:58344800-58348400	Active TSS	Right Ventricle	heart
48	chr11:58344800-58348600	Active TSS	Fetal Intestine Large	intestine
49	chr11:58344800-58348800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:58345000-58346800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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