Variant report

Variant	rs545396402
Chromosome Location	chr8:121824028-121824029
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	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:121823361-121824672	GM18951	blood:	n/a	n/a
3	MAX	chr8:121823231-121824784	MCF-7	breast:	n/a	chr8:121824141-121824151
4	YY1	chr8:121823954-121824224	HCT-116	colon:	n/a	chr8:121824073-121824093
5	YY1	chr8:121823916-121824139	GM12878	blood:	n/a	chr8:121824073-121824093
6	E2F6	chr8:121823299-121825046	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
7	TCF12	chr8:121823988-121825027	ECC-1	luminal epithelium:	n/a	chr8:121824631-121824641
8	POLR2A	chr8:121821718-121824797	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr8:121823374-121824028	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr8:121823976-121824479	HepG2	liver:	n/a	chr8:121824141-121824151
11	CEBPD	chr8:121823948-121824559	HepG2	liver:	n/a	n/a
12	MAX	chr8:121823195-121824880	H1-hESC	embryonic stem cell:	n/a	chr8:121824141-121824151
13	MXI1	chr8:121821733-121824850	HepG2	liver:	n/a	chr8:121821943-121821952
14	POLR2A	chr8:121823159-121824066	HepG2	liver:	n/a	n/a
15	YY1	chr8:121823840-121824133	SK-N-SH_RA	brain:	n/a	chr8:121824073-121824093
16	POLR2A	chr8:121823873-121824058	MCF-7	breast:	n/a	n/a
17	YY1	chr8:121823922-121824187	GM12892	blood:	n/a	chr8:121824073-121824093
18	E2F6	chr8:121823892-121824612	A549	lung:	n/a	chr8:121824483-121824493
19	YY1	chr8:121823216-121824791	HepG2	liver:	n/a	chr8:121824483-121824497 chr8:121824073-121824093 chr8:121824611-121824622
20	SIN3A	chr8:121823412-121824978	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr8:121823929-121825061	ECC-1	luminal epithelium:	n/a	chr8:121824141-121824151
22	POLR2A	chr8:121821944-121824445	IMR90	lung:	n/a	n/a
23	TAF1	chr8:121823703-121824123	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr8:121823205-121824840	NB4	blood:	n/a	n/a
25	TAF1	chr8:121823086-121824874	HepG2	liver:	n/a	n/a
26	TAF1	chr8:121823137-121824819	HepG2	liver:	n/a	n/a
27	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
28	YY1	chr8:121823705-121824247	H1-hESC	embryonic stem cell:	n/a	chr8:121824073-121824093
29	E2F6	chr8:121823189-121825093	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
30	MAX	chr8:121823821-121824935	ECC-1	luminal epithelium:	n/a	chr8:121824141-121824151
31	YY1	chr8:121823893-121824289	SK-N-SH	brain:	n/a	chr8:121824073-121824093
32	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:121823389-121824733	H1-hESC	embryonic stem cell:	n/a	n/a
34	HDAC2	chr8:121822811-121824834	MCF-7	breast:	n/a	n/a
35	TEAD4	chr8:121823873-121824348	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:121823223-121824869	HL-60	blood:	n/a	n/a
38	POLR2A	chr8:121821819-121824069	HepG2	liver:	n/a	n/a
39	MAX	chr8:121821607-121824778	HepG2	liver:	n/a	chr8:121822162-121822171 chr8:121824141-121824151
40	REST	chr8:121823257-121824607	HL-60	blood:	n/a	chr8:121824560-121824573
41	POLR2A	chr8:121823166-121824935	HL-60	blood:	n/a	n/a
42	MAX	chr8:121823224-121824976	H1-hESC	embryonic stem cell:	n/a	chr8:121824141-121824151
43	HEY1	chr8:121821709-121826887	HepG2	liver:	n/a	n/a
44	YY1	chr8:121823878-121824139	HepG2	liver:	n/a	chr8:121824073-121824093
45	NFIC	chr8:121823988-121825068	ECC-1	luminal epithelium:	n/a	n/a
46	RAD21	chr8:121823947-121824486	IMR90	lung:	n/a	n/a
47	USF1	chr8:121823906-121824321	SK-N-SH	brain:	n/a	n/a
48	TAF1	chr8:121823758-121824108	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr8:121823625-121824313	ECC-1	luminal epithelium:	n/a	chr8:121824073-121824093
50	POLR2A	chr8:121823790-121824846	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ENSG00000272502	TF binding region
SNTB1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3323996	chr8:121822996-121825544	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3377739	chr8:121823171-121825169	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr8:121820800-121824600	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:121820800-121824600	Active TSS	NHLF	lung
5	chr8:121820800-121824800	Active TSS	Right Atrium	heart
6	chr8:121820800-121824800	Active TSS	HSMMtube	muscle
7	chr8:121821000-121824200	Active TSS	Fetal Muscle Leg	muscle
8	chr8:121821000-121824600	Active TSS	Primary T cells fromperipheralblood	blood
9	chr8:121821000-121824600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr8:121821000-121824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:121821000-121824800	Active TSS	Aorta	Aorta
12	chr8:121821000-121824800	Active TSS	NHDF-Ad	bronchial
13	chr8:121821200-121824600	Active TSS	Psoas Muscle	Psoas
14	chr8:121821400-121824400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:121821400-121824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:121821400-121824600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:121821400-121824600	Active TSS	Brain Substantia Nigra	brain
18	chr8:121821400-121824600	Active TSS	Colon Smooth Muscle	Colon
19	chr8:121821400-121824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr8:121821400-121824800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr8:121821600-121824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr8:121821600-121824400	Active TSS	HSMM	muscle
23	chr8:121821600-121824600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:121821600-121824600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr8:121821800-121824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:121822000-121824600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:121822000-121824800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:121822000-121824800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:121822000-121824800	Active TSS	Gastric	stomach
30	chr8:121822000-121824800	Active TSS	Lung	lung
31	chr8:121822200-121824400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:121822200-121824400	Active TSS	Osteobl	bone
33	chr8:121822200-121824600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:121822200-121824600	Active TSS	Esophagus	oesophagus
35	chr8:121822200-121824600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr8:121822200-121824600	Active TSS	Left Ventricle	heart
37	chr8:121822200-121825000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr8:121822200-121825000	Active TSS	Pancreas	Pancrea
39	chr8:121822400-121824400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:121822400-121825000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr8:121822400-121825000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:121822600-121824200	Active TSS	Fetal Intestine Small	intestine
43	chr8:121822600-121824400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:121822600-121824400	Active TSS	Fetal Intestine Large	intestine
45	chr8:121822600-121824400	Active TSS	Ovary	ovary
46	chr8:121822600-121824600	Active TSS	H9 Cell Line	embryonic stem cell
47	chr8:121822600-121824600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:121822600-121824600	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr8:121822600-121824600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr8:121822600-121824800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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