Variant report

Variant	rs549847205
Chromosome Location	chr11:58345695-58345696
allele	C/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	EBF1	chr11:58344959-58345781	GM12878	blood:	n/a	n/a
2	YY1	chr11:58345644-58346272	A549	lung:	n/a	chr11:58345957-58345979 chr11:58345957-58345967 chr11:58345957-58345967
3	SIN3A	chr11:58345062-58346469	GM12878	blood:	n/a	n/a
4	ETS1	chr11:58344846-58346067	GM12878	blood:	n/a	chr11:58345715-58345732 chr11:58345860-58345873
5	POLR2A	chr11:58345219-58347405	MCF-7	breast:	n/a	n/a
6	ELF1	chr11:58345349-58345969	K562	blood:	n/a	chr11:58345713-58345724
7	FOXM1	chr11:58344461-58346574	GM12878	blood:	n/a	chr11:58344711-58344719
8	ARID3A	chr11:58344557-58346338	HepG2	liver:	n/a	n/a
9	YY1	chr11:58345351-58346488	HCT-116	colon:	n/a	chr11:58345957-58345979 chr11:58345957-58345967 chr11:58345957-58345967
10	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
11	POLR2A	chr11:58342402-58348892	K562	blood:	n/a	n/a
12	EGR1	chr11:58345424-58346147	K562	blood:	n/a	chr11:58345926-58345936 chr11:58345861-58345885 chr11:58345767-58345791 chr11:58345900-58345909
13	GTF2F1	chr11:58345007-58346518	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr11:58345184-58346464	K562	blood:	n/a	n/a
15	GTF2F1	chr11:58345351-58346500	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:58343758-58347552	GM12892	blood:	n/a	n/a
17	MYC	chr11:58345064-58347619	K562	blood:	n/a	chr11:58346672-58346682 chr11:58346577-58346587 chr11:58346587-58346597
18	POLR2A	chr11:58345013-58347479	GM12878	blood:	n/a	n/a
19	RCOR1	chr11:58344637-58346517	GM12878	blood:	n/a	n/a
20	TCF12	chr11:58344728-58346719	SK-N-SH	brain:	n/a	n/a
21	MXI1	chr11:58344695-58348006	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:58342757-58347555	Raji	blood:	n/a	n/a
23	USF1	chr11:58345395-58345881	A549	lung:	n/a	chr11:58345549-58345560
24	POLR2A	chr11:58344110-58347672	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:58345343-58345787	SK-N-SH	brain:	n/a	n/a
26	TAF1	chr11:58345261-58346038	HepG2	liver:	n/a	n/a
27	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
28	POLR2A	chr11:58344385-58347544	HepG2	liver:	n/a	n/a
29	IRF1	chr11:58344897-58346571	K562	blood:	n/a	chr11:58346482-58346496 chr11:58346422-58346431 chr11:58345078-58345094
30	TAL1	chr11:58344920-58346607	K562	blood:	n/a	chr11:58345180-58345189
31	NFYA	chr11:58345249-58345859	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:58345035-58347495	HepG2	liver:	n/a	n/a
33	ATF2	chr11:58345615-58346559	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOXP2	chr11:58345571-58345892	SK-N-MC	brain:	n/a	n/a
35	EBF1	chr11:58344670-58346565	GM12878	blood:	n/a	n/a
36	RAD21	chr11:58344410-58346282	IMR90	lung:	n/a	n/a
37	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
38	SIX5	chr11:58345594-58346015	K562	blood:	n/a	chr11:58345766-58345780
39	POLR2A	chr11:58345330-58346005	A549	lung:	n/a	n/a
40	MYC	chr11:58345115-58347601	K562	blood:	n/a	chr11:58346672-58346682 chr11:58346577-58346587 chr11:58346587-58346597
41	POLR2A	chr11:58344854-58347550	GM19193	blood:	n/a	n/a
42	TEAD4	chr11:58344868-58345987	K562	blood:	n/a	n/a
43	NR2C2	chr11:58345338-58346487	HepG2	liver:	n/a	chr11:58345712-58345721
44	NFATC1	chr11:58344545-58346566	GM12878	blood:	n/a	n/a
45	TBP	chr11:58345082-58346536	H1-hESC	embryonic stem cell:	n/a	n/a
46	POU2F2	chr11:58344923-58345985	GM12878	blood:	n/a	n/a
47	BCL3	chr11:58344909-58345706	GM12878	blood:	n/a	n/a
48	STAT5A	chr11:58344726-58346397	GM12878	blood:	n/a	n/a
49	STAT3	chr11:58344577-58346321	GM12878	blood:	n/a	n/a
50	NR2C2	chr11:58345175-58346516	Hela-S3	cervix:	n/a	chr11:58345712-58345721

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:58345687-58345737	HEK293	kidney:	embryo
2	chr11:58345687-58345737	AG09309	skin:	n/a
3	chr11:58345695-58345745	HEK293	kidney:	embryo
4	chr11:58345695-58345745	Hepatocyte	liver:	n/a
5	chr11:58345695-58345745	GM12878	blood:	n/a
6	chr11:58345695-58345745	HAEpiC	amniotic membrane:	n/a
7	chr11:58345687-58345737	Jurkat	blood:	n/a
8	chr11:58345695-58345745	GM06990	blood:	n/a
9	chr11:58345687-58345737	ECC-1	luminal epithelium:	n/a
10	chr11:58345687-58345737	ProgFib	skin:	n/a
11	chr11:58345687-58345737	HMEC	breast:	n/a
12	chr11:58345695-58345745	MCF-7	breast:	n/a
13	chr11:58345695-58345745	SK-N-SH	brain:	n/a
14	chr11:58345687-58345737	HEEpiC	esophagus:	n/a
15	chr11:58345687-58345737	SK-N-MC	brain:	n/a
16	chr11:58345695-58345745	AoSMC	blood vessel:	n/a
17	chr11:58345695-58345745	GM19239	blood:	n/a
18	chr11:58345695-58345745	Caco-2	colon:	n/a
19	chr11:58345687-58345737	BJ	skin:	n/a
20	chr11:58345695-58345745	Jurkat	blood:	n/a
21	chr11:58345687-58345737	HAEpiC	amniotic membrane:	n/a
22	chr11:58345695-58345745	HL-60	blood:	n/a
23	chr11:58345687-58345737	GM06990	blood:	n/a
24	chr11:58345695-58345745	HPAEpiC	pulmonary alveolar:	n/a
25	chr11:58345687-58345737	HRE	kidney:	n/a
26	chr11:58345687-58345737	HCM	heart:	n/a
27	chr11:58345687-58345737	GM12891	blood:	n/a
28	chr11:58345695-58345745	H1-hESC	embryonic stem cell:	embryo
29	chr11:58345687-58345737	AG10803	skin:	n/a
30	chr11:58345687-58345737	SK-N-SH_RA	brain:	n/a
31	chr11:58345687-58345737	GM12878	blood:	n/a
32	chr11:58345687-58345737	AG09319	gingival:	n/a
33	chr11:58345695-58345745	AG09309	skin:	n/a
34	chr11:58345687-58345737	Caco-2	colon:	n/a
35	chr11:58345687-58345737	BE2_C	brain:	n/a
36	chr11:58345687-58345737	LNCaP	prostate:	n/a
37	chr11:58345687-58345737	GM19239	blood:	n/a
38	chr11:58345687-58345737	RPTEC	kidney:	n/a
39	chr11:58345695-58345745	HEEpiC	esophagus:	n/a
40	chr11:58345687-58345737	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:58345695-58345745	AG04449	skin:	fetal
42	chr11:58345687-58345737	U87	brain:	n/a
43	chr11:58345695-58345745	ProgFib	skin:	n/a
44	chr11:58345687-58345737	MCF-7	breast:	n/a
45	chr11:58345695-58345745	SKMC	muscle:	n/a
46	chr11:58345695-58345745	HUVEC	blood vessel:	n/a
47	chr11:58345695-58345745	HRPEpiC	eye:	n/a
48	chr11:58345695-58345745	A549	lung:	n/a
49	chr11:58345695-58345745	HCF	heart:	n/a
50	chr11:58345687-58345737	T-47D	breast:	n/a

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	chr1:145382494..145383212-chr11:58345288..58345852,2	Hela-S3	cervix:
6	chr11:57433251..57437103-chr11:58344962..58348416,5	K562	blood:
7	chr11:57423476..57425127-chr11:58344978..58347964,2	K562	blood:
8	chr11:58343669..58348848-chr11:58387112..58391418,8	K562	blood:
9	chr11:58345131..58348848-chr11:58387112..58390850,4	K562	blood:
10	chr11:58344628..58346130-chr11:58388841..58391574,2	MCF-7	breast:
11	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
12	chr11:58343237..58345881-chr11:58936566..58939542,2	K562	blood:
13	chr1:156630989..156631533-chr11:58345269..58345934,2	HCT-116	colon:

Variant related genes	Relation type
LPXN	TF binding region
ZFP91-CNTF	TF binding region
ZFP91	TF binding region
LPXN	CpG island
ZFP91	CpG island
ZFP91-CNTF	CpG island
ENSG00000173011	Chromatin interaction
ENSG00000229953	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000166801	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000242689	Chromatin interaction
ENSG00000110042	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000165516	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3393748	chr11:58345582-58345943	Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 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	chr11:58342200-58346000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:58343800-58347800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:58344000-58347800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:58344200-58346000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:58344200-58346400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:58344200-58348200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:58344400-58345800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr11:58344400-58346400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:58344400-58347800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:58344400-58347800	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:58344400-58347800	Active TSS	Aorta	Aorta
12	chr11:58344400-58348000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:58344400-58348000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:58344400-58348000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:58344400-58348000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:58344400-58348200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:58344400-58348400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:58344400-58349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:58344400-58349400	Active TSS	K562	blood
20	chr11:58344600-58346000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:58344600-58346600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:58344600-58347200	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:58344600-58347800	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:58344600-58348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr11:58344600-58348000	Active TSS	Brain Angular Gyrus	brain
26	chr11:58344600-58348000	Active TSS	Colonic Mucosa	Colon
27	chr11:58344600-58348000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:58344600-58348000	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:58344600-58348000	Active TSS	HSMM	muscle
30	chr11:58344600-58348000	Active TSS	NHDF-Ad	bronchial
31	chr11:58344600-58348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr11:58344600-58348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:58344600-58348200	Active TSS	Fetal Intestine Small	intestine
34	chr11:58344600-58348400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr11:58344600-58348400	Active TSS	NHLF	lung
36	chr11:58344600-58348600	Active TSS	Psoas Muscle	Psoas
37	chr11:58344600-58348800	Active TSS	GM12878-XiMat	blood
38	chr11:58344600-58349000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr11:58344600-58349000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:58344600-58350000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:58344800-58347400	ZNF genes & repeats	Fetal Brain Male	brain
42	chr11:58344800-58347600	Active TSS	Left Ventricle	heart
43	chr11:58344800-58347600	Active TSS	Placenta Amnion	Placenta Amnion
44	chr11:58344800-58347600	Active TSS	Stomach Mucosa	stomach
45	chr11:58344800-58347800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:58344800-58347800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:58344800-58347800	Active TSS	Dnd41	blood
48	chr11:58344800-58348000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr11:58344800-58348200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:58344800-58348200	Active TSS	A549	lung

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