Variant report

Variant	rs544092796
Chromosome Location	chr18:11981033-11981034
allele	G/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	SIN3AK20	chr18:11980129-11981539	MCF-7	breast:	n/a	n/a
2	CHD2	chr18:11980124-11981266	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr18:11980989-11981298	K562	blood:	n/a	n/a
4	SP1	chr18:11981023-11981275	K562	blood:	n/a	chr18:11981114-11981124 chr18:11981115-11981124 chr18:11981187-11981201 chr18:11981115-11981124 chr18:11981192-11981201 chr18:11981113-11981125 chr18:11981192-11981201 chr18:11981114-11981123 chr18:11981190-11981202 chr18:11981113-11981125 chr18:11981191-11981200 chr18:11981190-11981202 chr18:11981191-11981201 chr18:11981191-11981201 chr18:11981114-11981124
5	TAF1	chr18:11980502-11981065	A549	lung:	n/a	n/a
6	SP1	chr18:11980355-11981448	H1-hESC	embryonic stem cell:	n/a	chr18:11981114-11981124 chr18:11981000-11981012 chr18:11981115-11981124 chr18:11981187-11981201 chr18:11980964-11980973 chr18:11981001-11981010 chr18:11980934-11980943 chr18:11981002-11981011 chr18:11980933-11980942 chr18:11980932-11980943 chr18:11980964-11980973 chr18:11981115-11981124 chr18:11980963-11980972 chr18:11981192-11981201 chr18:11980997-11981011 chr18:11980932-11980944 chr18:11981113-11981125 chr18:11980933-11980943 chr18:11980851-11980862 chr18:11980963-11980973 chr18:11981192-11981201 chr18:11981114-11981123 chr18:11981190-11981202 chr18:11981113-11981125 chr18:11980932-11980944 chr18:11981191-11981200 chr18:11981190-11981202 chr18:11981191-11981201 chr18:11980962-11980974 chr18:11980962-11980974 chr18:11980933-11980943 chr18:11981191-11981201 chr18:11981000-11981012 chr18:11981114-11981124
7	POLR2A	chr18:11980317-11981106	K562	blood:	n/a	n/a
8	TBL1XR1	chr18:11980179-11981225	K562	blood:	n/a	n/a
9	HDAC2	chr18:11980895-11981384	K562	blood:	n/a	n/a
10	MYBL2	chr18:11980106-11981205	HepG2	liver:	n/a	n/a
11	JUND	chr18:11980953-11981271	H1-hESC	embryonic stem cell:	n/a	chr18:11981000-11981009 chr18:11981132-11981146
12	YY1	chr18:11981006-11981261	GM12878	blood:	n/a	n/a
13	POLR2A	chr18:11980348-11981830	GM19099	blood:	n/a	n/a
14	POLR2A	chr18:11980370-11981236	H1-hESC	embryonic stem cell:	n/a	n/a
15	EGR1	chr18:11980832-11981075	K562	blood:	n/a	chr18:11981001-11981011
16	POLR2A	chr18:11980046-11981745	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF12	chr18:11980561-11981436	ECC-1	luminal epithelium:	n/a	chr18:11980676-11980686
18	UBTF	chr18:11980326-11982285	K562	blood:	n/a	n/a
19	TBP	chr18:11980367-11981096	HepG2	liver:	n/a	n/a
20	POLR2A	chr18:11980254-11981212	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr18:11979815-11984651	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr18:11980200-11982509	NB4	blood:	n/a	n/a
23	MYC	chr18:11980473-11981594	MCF-7	breast:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
24	MAX	chr18:11980246-11981677	MCF-7	breast:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
25	POLR2A	chr18:11979871-11982537	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr18:11980391-11982280	HepG2	liver:	n/a	n/a
27	POLR2A	chr18:11980422-11981063	GM12892	blood:	n/a	n/a
28	POLR2A	chr18:11980483-11981131	PANC-1	pancreas:	n/a	n/a
29	MYC	chr18:11980220-11981254	K562	blood:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
30	NFYB	chr18:11980863-11981228	GM12878	blood:	n/a	n/a
31	E2F6	chr18:11979875-11982298	K562	blood:	n/a	chr18:11980676-11980686 chr18:11981195-11981205 chr18:11981509-11981521 chr18:11981001-11981010
32	MAX	chr18:11980060-11982421	A549	lung:	n/a	chr18:11980736-11980743 chr18:11981882-11981892 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11981808-11981817 chr18:11980733-11980748
33	TAF1	chr18:11980356-11981214	H1-hESC	embryonic stem cell:	n/a	n/a
34	EP300	chr18:11980561-11981835	ECC-1	luminal epithelium:	n/a	chr18:11981485-11981501 chr18:11981211-11981227 chr18:11981626-11981642 chr18:11981201-11981217 chr18:11981487-11981503
35	MYC	chr18:11980211-11981212	H1-hESC	embryonic stem cell:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
36	MYC	chr18:11980412-11981239	MCF-7	breast:	n/a	chr18:11980736-11980743 chr18:11980734-11980745 chr18:11980735-11980745 chr18:11980735-11980744 chr18:11980733-11980748
37	ATF2	chr18:11980997-11981334	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr18:11980387-11981172	K562	blood:	n/a	n/a
39	IRF1	chr18:11980104-11981222	K562	blood:	n/a	chr18:11980932-11980946 chr18:11981000-11981014 chr18:11981113-11981127 chr18:11980962-11980976 chr18:11981190-11981204
40	HA-E2F1	chr18:11980263-11981255	MCF-7	breast:	n/a	chr18:11980676-11980686 chr18:11981195-11981205 chr18:11981001-11981010
41	EBF1	chr18:11980967-11981222	GM12878	blood:	n/a	n/a
42	BRCA1	chr18:11980153-11981274	Hela-S3	cervix:	n/a	n/a
43	E2F6	chr18:11980084-11981760	H1-hESC	embryonic stem cell:	n/a	chr18:11980676-11980686 chr18:11981195-11981205 chr18:11981509-11981521 chr18:11981001-11981010
44	POLR2A	chr18:11980052-11981172	Hela-S3	cervix:	n/a	n/a
45	BHLHE40	chr18:11980187-11982174	HepG2	liver:	n/a	chr18:11981850-11981866 chr18:11981036-11981052 chr18:11981211-11981227 chr18:11981874-11981890 chr18:11981998-11982019
46	STAT1	chr18:11980777-11981225	GM12878	blood:	n/a	n/a
47	POLR2A	chr18:11980206-11981201	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr18:11980356-11981333	H1-hESC	embryonic stem cell:	n/a	chr18:11980676-11980690
49	POLR2A	chr18:11979874-11982211	Raji	blood:	n/a	n/a
50	POLR2A	chr18:11980259-11981704	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11979615..11982143-chr18:12376173..12378788,2	K562	blood:
2	chr14:24682206..24682834-chr18:11980405..11981236,2	Hela-S3	cervix:
3	chr18:11848937..11853647-chr18:11979272..11982109,5	K562	blood:
4	chr18:11980301..11981116-chr8:80942163..80942686,2	Hela-S3	cervix:
5	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
6	chr18:11905898..11908508-chr18:11980358..11982828,3	K562	blood:
7	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
8	chr1:24285780..24286361-chr18:11980215..11981116,2	Hela-S3	cervix:
9	chr18:11980686..11981570-chr3:149530416..149530989,2	Hela-S3	cervix:
10	chr18:11906869..11908788-chr18:11979428..11982249,2	K562	blood:
11	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
12	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
13	chr12:6579509..6580224-chr18:11980779..11981594,2	Hela-S3	cervix:
14	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:

Variant related genes	Relation type
IMPA2	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000147586	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000266955	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000189266	Chromatin interaction
ENSG00000139190	Chromatin interaction
ENSG00000273141	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000082996	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
10	esv3424914	chr18:11980377-11982925	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	18 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	chr18:11980000-11982600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:11980000-11983200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:11980000-11983200	Active TSS	Psoas Muscle	Psoas
4	chr18:11980200-11981800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:11980200-11981800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:11980200-11981800	Active TSS	Brain Cingulate Gyrus	brain
7	chr18:11980200-11981800	Active TSS	Brain Hippocampus Middle	brain
8	chr18:11980200-11981800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:11980200-11982000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr18:11980200-11982000	Active TSS	Brain Anterior Caudate	brain
11	chr18:11980200-11982000	Active TSS	Fetal Brain Female	brain
12	chr18:11980200-11982000	Active TSS	Fetal Muscle Trunk	muscle
13	chr18:11980200-11982200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:11980200-11982200	Active TSS	HSMMtube	muscle
15	chr18:11980200-11982400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr18:11980200-11982400	Active TSS	Aorta	Aorta
17	chr18:11980200-11982400	Active TSS	Brain Substantia Nigra	brain
18	chr18:11980200-11982400	Active TSS	Ovary	ovary
19	chr18:11980200-11982600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:11980200-11982600	Active TSS	Colon Smooth Muscle	Colon
21	chr18:11980200-11982600	Active TSS	Right Ventricle	heart
22	chr18:11980200-11982800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr18:11980200-11982800	Active TSS	A549	lung
24	chr18:11980200-11983000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr18:11980200-11983000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr18:11980200-11983000	Active TSS	Fetal Kidney	kidney
27	chr18:11980200-11983000	Active TSS	Left Ventricle	heart
28	chr18:11980200-11984200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr18:11980400-11981800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr18:11980400-11982000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:11980400-11982000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr18:11980400-11982000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr18:11980400-11982000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr18:11980400-11982000	Active TSS	Brain Angular Gyrus	brain
35	chr18:11980400-11982200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:11980400-11982400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:11980400-11982400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:11980400-11982400	Active TSS	Lung	lung
39	chr18:11980400-11982400	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr18:11980400-11982600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:11980400-11982600	Active TSS	HSMM	muscle
42	chr18:11980400-11982800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr18:11980400-11982800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr18:11980400-11982800	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr18:11980400-11982800	Active TSS	HepG2	liver
46	chr18:11980400-11983000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr18:11980400-11983000	Active TSS	Fetal Intestine Large	intestine
48	chr18:11980400-11983200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr18:11980400-11983200	Active TSS	Esophagus	oesophagus
50	chr18:11980600-11981200	Flanking Active TSS	Dnd41	blood

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