Variant report

Variant	rs191339686
Chromosome Location	chr5:74160813-74160814
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	POLR2A	chr5:74160377-74163048	HepG2	liver:	n/a	n/a
2	JUND	chr5:74160766-74161080	HepG2	liver:	n/a	n/a
3	TBP	chr5:74160780-74161014	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:74160742-74161053	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:74160806-74162477	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr5:74160706-74161130	HepG2	liver:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
7	MYC	chr5:74160723-74161025	MCF10A-Er-Src	breast:	n/a	n/a
8	HDAC2	chr5:74160705-74161091	HepG2	liver:	n/a	n/a
9	EP300	chr5:74160788-74160968	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:74160566-74160814	HepG2	liver:	n/a	n/a
11	CEBPB	chr5:74160726-74161091	HepG2	liver:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
12	MBD4	chr5:74160507-74161108	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:74160717-74161164	MCF-7	breast:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
14	MYC	chr5:74160765-74161032	MCF10A-Er-Src	breast:	n/a	n/a
15	MYBL2	chr5:74160594-74161184	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:74160759-74163043	HepG2	liver:	n/a	n/a
17	EP300	chr5:74160676-74161098	HepG2	liver:	n/a	n/a
18	CEBPB	chr5:74160738-74161102	H1-hESC	embryonic stem cell:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
19	SMC3	chr5:74160673-74161461	HepG2	liver:	n/a	n/a
20	HEY1	chr5:74160559-74161026	HepG2	liver:	n/a	n/a
21	ZNF263	chr5:74160620-74162789	HEK293-T-REx	kidney:	n/a	n/a
22	CEBPD	chr5:74160773-74161056	HepG2	liver:	n/a	n/a
23	JUN	chr5:74160792-74161081	HepG2	liver:	n/a	chr5:74160927-74160940
24	CEBPB	chr5:74160786-74161070	IMR90	lung:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
25	TEAD4	chr5:74160582-74161144	HepG2	liver:	n/a	n/a
26	CEBPB	chr5:74160756-74161001	HepG2	liver:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
27	FOS	chr5:74160744-74161028	MCF10A-Er-Src	breast:	n/a	n/a
28	RAD21	chr5:74160807-74160989	HepG2	liver:	n/a	n/a
29	GATA3	chr5:74160702-74161059	T-47D	breast:	n/a	n/a
30	POLR2A	chr5:74160110-74160838	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr5:74160647-74163073	HepG2	liver:	n/a	n/a
32	SIN3A	chr5:74160653-74163041	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr5:74160621-74161159	MCF-7	breast:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
34	MBD4	chr5:74160663-74161501	HepG2	liver:	n/a	n/a
35	CHD1	chr5:74160489-74163268	H1-hESC	embryonic stem cell:	n/a	chr5:74162137-74162147 chr5:74162977-74162984
36	POLR2A	chr5:74160744-74161027	HepG2	liver:	n/a	n/a
37	FOS	chr5:74160735-74161033	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:74160249-74161841	HepG2	liver:	n/a	n/a
39	CEBPB	chr5:74160744-74161091	A549	lung:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
40	KAP1	chr5:74160385-74161861	HEK293	kidney:	n/a	n/a
41	NFIC	chr5:74160667-74161110	HepG2	liver:	n/a	n/a
42	CEBPB	chr5:74160803-74161112	ECC-1	luminal epithelium:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
43	GATA3	chr5:74160687-74161011	T-47D	breast:	n/a	n/a
44	HEY1	chr5:74160345-74163102	HepG2	liver:	n/a	chr5:74161997-74162012 chr5:74162243-74162258 chr5:74162276-74162291 chr5:74162345-74162360
45	FOS	chr5:74160803-74161027	MCF10A-Er-Src	breast:	n/a	n/a
46	MAX	chr5:74160584-74163163	HepG2	liver:	n/a	chr5:74162270-74162280 chr5:74162396-74162406
47	FOXA2	chr5:74160704-74161058	HepG2	liver:	n/a	n/a
48	CEBPB	chr5:74160652-74161123	HepG2	liver:	n/a	chr5:74160930-74160941 chr5:74160890-74160901
49	MAX	chr5:74160718-74160918	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000271714	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3338870	chr5:74159996-74164294	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74147400-74161000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:74148200-74161200	Weak transcription	Right Atrium	heart
3	chr5:74157200-74161000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:74158600-74161000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:74158600-74163000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr5:74158800-74163800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:74159000-74162800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:74159400-74161000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:74159400-74161000	Flanking Active TSS	NHEK	skin
10	chr5:74159400-74163000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:74159400-74163000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr5:74159400-74163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:74159600-74161000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:74159600-74162800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:74159800-74163000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:74160000-74162800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:74160000-74163000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:74160200-74162200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:74160200-74163000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:74160200-74163000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:74160400-74161000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:74160400-74161400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:74160400-74161600	Bivalent/Poised TSS	HepG2	liver
24	chr5:74160400-74162800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:74160400-74163000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:74160400-74163000	Active TSS	Brain Angular Gyrus	brain
27	chr5:74160400-74163200	Active TSS	Brain Cingulate Gyrus	brain
28	chr5:74160600-74161000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr5:74160600-74161000	Enhancers	Fetal Brain Male	brain
30	chr5:74160600-74161000	Flanking Active TSS	HMEC	breast
31	chr5:74160600-74161200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:74160600-74161200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:74160600-74161200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:74160600-74161600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr5:74160600-74161600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:74160600-74161600	Flanking Active TSS	Dnd41	blood
37	chr5:74160600-74162600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:74160600-74163000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:74160600-74163000	Active TSS	Fetal Kidney	kidney
40	chr5:74160600-74163000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:74160800-74161000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:74160800-74161000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:74160800-74161000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr5:74160800-74161000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr5:74160800-74161000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:74160800-74161000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:74160800-74161000	Enhancers	Liver	Liver
48	chr5:74160800-74161000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
49	chr5:74160800-74161000	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr5:74160800-74161000	Bivalent Enhancer	Fetal Thymus	thymus

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