Variant report

Variant	rs549752541
Chromosome Location	chr8:121823560-121823561
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	HEY1	chr8:121820697-121826988	HepG2	liver:	n/a	n/a
2	SPI1	chr8:121823389-121823682	GM12878	blood:	n/a	n/a
3	MAX	chr8:121823253-121823896	NB4	blood:	n/a	n/a
4	POLR2A	chr8:121823361-121824672	GM18951	blood:	n/a	n/a
5	ELF1	chr8:121823320-121823851	GM12878	blood:	n/a	n/a
6	MAX	chr8:121823231-121824784	MCF-7	breast:	n/a	chr8:121824141-121824151
7	E2F6	chr8:121823299-121825046	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
8	POLR2A	chr8:121821718-121824797	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr8:121823272-121823633	HepG2	liver:	n/a	chr8:121823397-121823407
10	ARID3A	chr8:121823133-121823596	HepG2	liver:	n/a	n/a
11	CTBP2	chr8:121823374-121824028	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:121823516-121823914	GM12878	blood:	n/a	n/a
13	RAD21	chr8:121823255-121823688	HepG2	liver:	n/a	chr8:121823397-121823407
14	MYC	chr8:121823538-121823652	MCF-7	breast:	n/a	n/a
15	MAX	chr8:121823371-121823712	GM12878	blood:	n/a	n/a
16	MAX	chr8:121823195-121824880	H1-hESC	embryonic stem cell:	n/a	chr8:121824141-121824151
17	MXI1	chr8:121823366-121823719	GM12878	blood:	n/a	n/a
18	MAX	chr8:121822889-121823752	HepG2	liver:	n/a	n/a
19	MXI1	chr8:121821733-121824850	HepG2	liver:	n/a	chr8:121821943-121821952
20	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
21	POLR2A	chr8:121823159-121824066	HepG2	liver:	n/a	n/a
22	MAX	chr8:121823328-121823616	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr8:121823130-121823711	HepG2	liver:	n/a	n/a
24	NFIC	chr8:121821474-121823786	HepG2	liver:	n/a	n/a
25	MYC	chr8:121823382-121823974	MCF-7	breast:	n/a	n/a
26	CHD1	chr8:121823521-121823710	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
28	ZNF143	chr8:121823558-121823576	GM12878	blood:	n/a	n/a
29	CEBPD	chr8:121823161-121823642	HepG2	liver:	n/a	n/a
30	FOXA1	chr8:121823274-121823629	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
32	BACH1	chr8:121823428-121823632	H1-hESC	embryonic stem cell:	n/a	n/a
33	GTF2F1	chr8:121823416-121823750	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr8:121823320-121823692	HepG2	liver:	n/a	chr8:121823372-121823381 chr8:121823373-121823382
35	CEBPB	chr8:121823517-121823717	H1-hESC	embryonic stem cell:	n/a	n/a
36	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
37	EBF1	chr8:121820847-121823655	GM12878	blood:	n/a	chr8:121822673-121822684
38	YY1	chr8:121823216-121824791	HepG2	liver:	n/a	chr8:121824483-121824497 chr8:121824073-121824093 chr8:121824611-121824622
39	MAZ	chr8:121820883-121823587	GM12878	blood:	n/a	chr8:121822162-121822171
40	SIN3A	chr8:121823412-121824978	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr8:121821944-121824445	IMR90	lung:	n/a	n/a
42	CHD2	chr8:121823325-121823582	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:121823205-121824840	NB4	blood:	n/a	n/a
44	CHD2	chr8:121822612-121823819	HepG2	liver:	n/a	n/a
45	REST	chr8:121821644-121823951	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr8:121823379-121823593	HepG2	liver:	n/a	n/a
47	HDAC2	chr8:121823150-121823679	HepG2	liver:	n/a	n/a
48	POLR2A	chr8:121823465-121823815	MCF-7	breast:	n/a	n/a
49	RCOR1	chr8:121821486-121823676	HepG2	liver:	n/a	n/a
50	ZBTB7A	chr8:121823275-121823571	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000272502	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121819200-121823800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:121820600-121824000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr8:121820800-121824600	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:121820800-121824600	Active TSS	NHLF	lung
7	chr8:121820800-121824800	Active TSS	Right Atrium	heart
8	chr8:121820800-121824800	Active TSS	HSMMtube	muscle
9	chr8:121821000-121823600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:121821000-121824000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr8:121821000-121824200	Active TSS	Fetal Muscle Leg	muscle
12	chr8:121821000-121824600	Active TSS	Primary T cells fromperipheralblood	blood
13	chr8:121821000-121824600	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr8:121821000-121824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121821000-121824800	Active TSS	Aorta	Aorta
16	chr8:121821000-121824800	Active TSS	NHDF-Ad	bronchial
17	chr8:121821200-121824600	Active TSS	Psoas Muscle	Psoas
18	chr8:121821400-121824400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:121821400-121824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:121821400-121824600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:121821400-121824600	Active TSS	Brain Substantia Nigra	brain
22	chr8:121821400-121824600	Active TSS	Colon Smooth Muscle	Colon
23	chr8:121821400-121824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr8:121821400-121824800	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr8:121821600-121824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:121821600-121824400	Active TSS	HSMM	muscle
27	chr8:121821600-121824600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:121821600-121824600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr8:121821800-121823600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr8:121821800-121823800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:121821800-121824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:121822000-121823800	Flanking Active TSS	Placenta	Placenta
33	chr8:121822000-121824000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:121822000-121824600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:121822000-121824800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr8:121822000-121824800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:121822000-121824800	Active TSS	Gastric	stomach
38	chr8:121822000-121824800	Active TSS	Lung	lung
39	chr8:121822200-121823800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:121822200-121823800	Bivalent/Poised TSS	HepG2	liver
41	chr8:121822200-121824400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121822200-121824400	Active TSS	Osteobl	bone
43	chr8:121822200-121824600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:121822200-121824600	Active TSS	Esophagus	oesophagus
45	chr8:121822200-121824600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr8:121822200-121824600	Active TSS	Left Ventricle	heart
47	chr8:121822200-121825000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:121822200-121825000	Active TSS	Pancreas	Pancrea
49	chr8:121822400-121824400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:121822400-121825000	Flanking Active TSS	Primary B cells from cord blood	blood

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