Variant report

Variant	rs553722572
Chromosome Location	chr14:32670128-32670129
allele	A/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	NFIC	chr14:32669857-32673593	HepG2	liver:	n/a	chr14:32670734-32670751
2	MAX	chr14:32669830-32671113	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:32669994-32671863	HepG2	liver:	n/a	n/a
4	BHLHE40	chr14:32669588-32670359	GM12878	blood:	n/a	n/a
5	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
6	ZNF143	chr14:32669700-32671377	GM12878	blood:	n/a	chr14:32671007-32671022 chr14:32671004-32671023
7	ZEB1	chr14:32669719-32673848	HepG2	liver:	n/a	n/a
8	IKZF1	chr14:32669575-32670421	GM12878	blood:	n/a	n/a
9	TCF12	chr14:32670008-32673441	A549	lung:	n/a	n/a
10	KAP1	chr14:32670030-32673658	HEK293	kidney:	n/a	n/a
11	NFIC	chr14:32670096-32671945	HepG2	liver:	n/a	chr14:32670734-32670751
12	MAX	chr14:32669799-32673731	HepG2	liver:	n/a	chr14:32672740-32672750
13	CREB1	chr14:32669939-32673704	HepG2	liver:	n/a	n/a
14	MAX	chr14:32670021-32671500	Hela-S3	cervix:	n/a	n/a
15	HEY1	chr14:32669934-32671610	HepG2	liver:	n/a	n/a
16	MXI1	chr14:32669911-32671203	Hela-S3	cervix:	n/a	n/a
17	HEY1	chr14:32669955-32671487	HepG2	liver:	n/a	n/a
18	SIN3AK20	chr14:32670000-32671494	MCF-7	breast:	n/a	n/a
19	POLR2A	chr14:32670028-32673065	HepG2	liver:	n/a	n/a
20	MXI1	chr14:32670069-32673550	HepG2	liver:	n/a	n/a
21	ZEB1	chr14:32669972-32673676	HepG2	liver:	n/a	n/a
22	GTF2F1	chr14:32670109-32671364	Hela-S3	cervix:	n/a	n/a
23	REST	chr14:32670081-32672057	HepG2	liver:	n/a	chr14:32670910-32670923 chr14:32670545-32670565 chr14:32670550-32670559 chr14:32670501-32670519 chr14:32670548-32670561 chr14:32670884-32670893
24	FOXA2	chr14:32669929-32671226	HepG2	liver:	n/a	n/a
25	MYBL2	chr14:32669879-32673629	HepG2	liver:	n/a	n/a
26	HDAC2	chr14:32670112-32671645	MCF-7	breast:	n/a	chr14:32670545-32670564
27	SREBP2	chr14:32669379-32674149	GM12878	blood:	n/a	n/a
28	CUX1	chr14:32669557-32670402	GM12878	blood:	n/a	n/a
29	TBP	chr14:32669731-32670617	GM12878	blood:	n/a	n/a
30	WRNIP1	chr14:32670052-32670722	GM12878	blood:	n/a	n/a
31	CHD2	chr14:32669633-32670995	GM12878	blood:	n/a	n/a
32	TCF7L2	chr14:32670072-32671577	Hela-S3	cervix:	n/a	chr14:32670136-32670152 chr14:32670140-32670150 chr14:32670140-32670149 chr14:32670137-32670151 chr14:32670136-32670152
33	MBD4	chr14:32669896-32673886	HepG2	liver:	n/a	n/a
34	MAZ	chr14:32669713-32670903	GM12878	blood:	n/a	n/a
35	MBD4	chr14:32669890-32673606	HepG2	liver:	n/a	n/a
36	EBF1	chr14:32669658-32670424	GM12878	blood:	n/a	n/a
37	MXI1	chr14:32669629-32673720	SK-N-SH	brain:	n/a	n/a
38	MYBL2	chr14:32669934-32673803	HepG2	liver:	n/a	n/a
39	RUNX3	chr14:32669535-32670136	GM12878	blood:	n/a	n/a
40	SPI1	chr14:32669301-32670327	GM12878	blood:	n/a	chr14:32669825-32669838
41	EP300	chr14:32669578-32670795	GM12878	blood:	n/a	chr14:32669822-32669836 chr14:32669828-32669842
42	POLR2A	chr14:32669900-32673426	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:32670002-32671387	HepG2	liver:	n/a	n/a
44	POLR2A	chr14:32670109-32670247	MCF10A-Er-Src	breast:	n/a	n/a
45	BRCA1	chr14:32670041-32670552	Hela-S3	cervix:	n/a	n/a
46	MAX	chr14:32670013-32671791	A549	lung:	n/a	n/a
47	MAX	chr14:32669914-32673720	HepG2	liver:	n/a	chr14:32672740-32672750
48	ARID3A	chr14:32670008-32673683	HepG2	liver:	n/a	chr14:32671605-32671621
49	TBP	chr14:32670128-32671445	K562	blood:	n/a	n/a
50	POLR2A	chr14:32669952-32671397	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:32544618..32548147-chr14:32668083..32673759,9	K562	blood:
2	chr14:32665295..32667033-chr14:32668377..32670750,3	K562	blood:
3	chr14:32544948..32548496-chr14:32669195..32673537,9	MCF-7	breast:
4	chr14:32544500..32547770-chr14:32669959..32673759,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf126-5	chr14:32669704-32670732	XLOC_010989

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	esv3380705	chr14:32668101-32670199	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:105 , 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	chr14:32669600-32670200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr14:32669600-32672400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:32669600-32673600	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr14:32669600-32674000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:32669800-32670200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr14:32669800-32670200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:32669800-32670200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr14:32669800-32670200	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr14:32669800-32670400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:32669800-32670400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr14:32669800-32670600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr14:32669800-32670600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr14:32669800-32670800	Active TSS	Primary B cells from peripheral blood	blood
18	chr14:32669800-32671000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr14:32669800-32671200	Active TSS	Duodenum Mucosa	Duodenum
20	chr14:32669800-32671200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr14:32669800-32671400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr14:32669800-32671400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr14:32669800-32671400	Active TSS	Hela-S3	cervix
24	chr14:32669800-32671400	Active TSS	K562	blood
25	chr14:32669800-32671600	Active TSS	Fetal Intestine Large	intestine
26	chr14:32669800-32671600	Active TSS	Fetal Thymus	thymus
27	chr14:32669800-32671800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr14:32669800-32672400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr14:32669800-32673400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:32669800-32673400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr14:32669800-32673400	Active TSS	Fetal Heart	heart
32	chr14:32669800-32673800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr14:32669800-32673800	Active TSS	Brain Anterior Caudate	brain
34	chr14:32669800-32674000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:32670000-32670200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:32670000-32670200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr14:32670000-32670200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:32670000-32670200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:32670000-32670200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr14:32670000-32670200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:32670000-32670200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:32670000-32670200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:32670000-32670200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr14:32670000-32670200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:32670000-32670200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:32670000-32670200	Active TSS	Liver	Liver
47	chr14:32670000-32670200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr14:32670000-32670200	Active TSS	GM12878-XiMat	blood
49	chr14:32670000-32670200	Active TSS	NH-A	brain
50	chr14:32670000-32670200	Bivalent/Poised TSS	Osteobl	bone

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