Variant report

Variant	rs552782489
Chromosome Location	chr14:32671221-32671222
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	SP1	chr14:32670278-32671453	A549	lung:	n/a	chr14:32670534-32670544 chr14:32670440-32670453 chr14:32670450-32670460 chr14:32670450-32670460 chr14:32670534-32670544
2	SMC3	chr14:32671061-32671354	HepG2	liver:	n/a	n/a
3	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
4	ATF3	chr14:32670995-32671591	A549	lung:	n/a	n/a
5	MAX	chr14:32670160-32671597	ECC-1	luminal epithelium:	n/a	n/a
6	RAD21	chr14:32670160-32671226	HepG2	liver:	n/a	n/a
7	BHLHE40	chr14:32669994-32671863	HepG2	liver:	n/a	n/a
8	ELF1	chr14:32670218-32671304	HepG2	liver:	n/a	n/a
9	HCFC1	chr14:32670483-32671379	K562	blood:	n/a	n/a
10	CEBPD	chr14:32670375-32671305	HepG2	liver:	n/a	n/a
11	CHD2	chr14:32670261-32671844	HepG2	liver:	n/a	n/a
12	HNF4A	chr14:32670119-32671566	HepG2	liver:	n/a	chr14:32670144-32670157 chr14:32670144-32670156 chr14:32670143-32670157 chr14:32670141-32670159 chr14:32670806-32670821 chr14:32670144-32670156 chr14:32670143-32670157 chr14:32670706-32670718 chr14:32670143-32670156 chr14:32670144-32670156
13	ZNF143	chr14:32669700-32671377	GM12878	blood:	n/a	chr14:32671007-32671022 chr14:32671004-32671023
14	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
15	MAFK	chr14:32671217-32671583	HepG2	liver:	n/a	n/a
16	POU2F2	chr14:32670730-32671505	GM12891	blood:	n/a	chr14:32671027-32671041 chr14:32671029-32671039 chr14:32671026-32671039 chr14:32671026-32671041 chr14:32671027-32671039 chr14:32671028-32671038 chr14:32670831-32670843 chr14:32671029-32671038 chr14:32671027-32671040 chr14:32671030-32671037 chr14:32671028-32671038
17	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
18	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
19	NFIC	chr14:32670096-32671945	HepG2	liver:	n/a	chr14:32670734-32670751
20	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
21	RFX5	chr14:32670988-32671555	HepG2	liver:	n/a	n/a
22	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
23	BRF2	chr14:32671043-32671420	Hela-S3	cervix:	n/a	n/a
24	MAX	chr14:32670021-32671500	Hela-S3	cervix:	n/a	n/a
25	BRF2	chr14:32671023-32671417	K562	blood:	n/a	n/a
26	SP1	chr14:32670236-32671550	A549	lung:	n/a	chr14:32670450-32670460 chr14:32670440-32670453 chr14:32670450-32670460 chr14:32670534-32670544 chr14:32670534-32670544
27	CEBPB	chr14:32671161-32671589	A549	lung:	n/a	n/a
28	FOXA1	chr14:32670211-32671997	HepG2	liver:	n/a	n/a
29	CEBPB	chr14:32671215-32671548	HepG2	liver:	n/a	n/a
30	MYC	chr14:32670175-32671390	K562	blood:	n/a	n/a
31	HEY1	chr14:32669934-32671610	HepG2	liver:	n/a	n/a
32	BHLHE40	chr14:32670560-32671261	K562	blood:	n/a	n/a
33	SIN3AK20	chr14:32670234-32671329	HepG2	liver:	n/a	n/a
34	HEY1	chr14:32669955-32671487	HepG2	liver:	n/a	n/a
35	POU2F2	chr14:32670551-32671467	GM12891	blood:	n/a	chr14:32671027-32671041 chr14:32671029-32671039 chr14:32671026-32671039 chr14:32671026-32671041 chr14:32671027-32671039 chr14:32671028-32671038 chr14:32670831-32670843 chr14:32671029-32671038 chr14:32671027-32671040 chr14:32671030-32671037 chr14:32671028-32671038
36	EP300	chr14:32671017-32671438	GM12878	blood:	n/a	n/a
37	SIN3AK20	chr14:32670000-32671494	MCF-7	breast:	n/a	n/a
38	FOXA1	chr14:32670308-32671384	HepG2	liver:	n/a	n/a
39	YY1	chr14:32671137-32671599	SK-N-SH_RA	brain:	n/a	chr14:32671526-32671536 chr14:32671526-32671548
40	POLR2A	chr14:32670292-32671603	HepG2	liver:	n/a	n/a
41	GATA2	chr14:32670370-32673426	SH-SY5Y	brain:	n/a	chr14:32672553-32672563 chr14:32671863-32671873
42	JUND	chr14:32670244-32671308	HepG2	liver:	n/a	n/a
43	TBP	chr14:32670388-32673021	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:32670219-32671653	HEK293	kidney:	n/a	n/a
45	POU2F2	chr14:32670808-32671396	GM12878	blood:	n/a	chr14:32671027-32671041 chr14:32671029-32671039 chr14:32671026-32671039 chr14:32671026-32671041 chr14:32671027-32671039 chr14:32671028-32671038 chr14:32670831-32670843 chr14:32671029-32671038 chr14:32671027-32671040 chr14:32671030-32671037 chr14:32671028-32671038
46	POLR2A	chr14:32670028-32673065	HepG2	liver:	n/a	n/a
47	MXI1	chr14:32670069-32673550	HepG2	liver:	n/a	n/a
48	MAX	chr14:32670157-32671259	MCF-7	breast:	n/a	n/a
49	HDAC2	chr14:32670159-32671734	HepG2	liver:	n/a	chr14:32670545-32670564
50	ZEB1	chr14:32669972-32673676	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
3	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:

Variant related genes	Relation type
RNU6-7	TF binding region
ENSG00000100852	Chromatin interaction
ENSG00000258655	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	nsv832764	chr14:32564468-32723213	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3527777	chr14:32669175-32761850	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3527778	chr14:32669175-32761850	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv826912	chr14:32670839-32671283	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr14:32669200-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:32669400-32671600	Active TSS	A549	lung
3	chr14:32669400-32672400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr14:32669400-32673600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr14:32669600-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:32669800-32671400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr14:32669800-32671400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr14:32669800-32671400	Active TSS	Hela-S3	cervix
11	chr14:32669800-32671400	Active TSS	K562	blood
12	chr14:32669800-32671600	Active TSS	Fetal Intestine Large	intestine
13	chr14:32669800-32671600	Active TSS	Fetal Thymus	thymus
14	chr14:32669800-32671800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:32669800-32672400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr14:32669800-32673400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:32669800-32673400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr14:32669800-32673400	Active TSS	Fetal Heart	heart
19	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
21	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:32670000-32671400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:32670000-32671400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr14:32670000-32671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:32670000-32671400	Active TSS	Fetal Stomach	stomach
26	chr14:32670000-32671400	Active TSS	Stomach Smooth Muscle	stomach
27	chr14:32670000-32671400	Bivalent/Poised TSS	HepG2	liver
28	chr14:32670000-32671600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:32670000-32671600	Active TSS	Fetal Intestine Small	intestine
30	chr14:32670000-32672000	Active TSS	NHLF	lung
31	chr14:32670000-32672200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr14:32670000-32672200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr14:32670000-32672200	Flanking Active TSS	Placenta	Placenta
34	chr14:32670000-32672400	Flanking Bivalent TSS/Enh	Dnd41	blood
35	chr14:32670000-32672400	Flanking Active TSS	HMEC	breast
36	chr14:32670000-32673200	Active TSS	Brain Cingulate Gyrus	brain
37	chr14:32670000-32673200	Active TSS	Thymus	Thymus
38	chr14:32670000-32673400	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr14:32670000-32673400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:32670000-32673400	Active TSS	Fetal Brain Male	brain
41	chr14:32670000-32673400	Active TSS	Fetal Kidney	kidney
42	chr14:32670000-32673400	Active TSS	Left Ventricle	heart
43	chr14:32670000-32673400	Active TSS	Psoas Muscle	Psoas
44	chr14:32670000-32673400	Active TSS	Right Ventricle	heart
45	chr14:32670000-32673600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr14:32670000-32673600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:32670000-32673600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:32670000-32673600	Active TSS	Ovary	ovary
49	chr14:32670000-32673600	Active TSS	Right Atrium	heart
50	chr14:32670000-32673800	Active TSS	Brain Angular Gyrus	brain

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