Variant report

Variant	rs200773638
Chromosome Location	chr8:121823699-121823700
allele	A/C
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	MAX	chr8:121823253-121823896	NB4	blood:	n/a	n/a
3	POLR2A	chr8:121823361-121824672	GM18951	blood:	n/a	n/a
4	ELF1	chr8:121823320-121823851	GM12878	blood:	n/a	n/a
5	MAX	chr8:121823231-121824784	MCF-7	breast:	n/a	chr8:121824141-121824151
6	E2F6	chr8:121823299-121825046	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
7	POLR2A	chr8:121821718-121824797	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr8:121823374-121824028	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:121823516-121823914	GM12878	blood:	n/a	n/a
10	MAX	chr8:121823371-121823712	GM12878	blood:	n/a	n/a
11	MAX	chr8:121823195-121824880	H1-hESC	embryonic stem cell:	n/a	chr8:121824141-121824151
12	MXI1	chr8:121823366-121823719	GM12878	blood:	n/a	n/a
13	MAX	chr8:121822889-121823752	HepG2	liver:	n/a	n/a
14	MXI1	chr8:121821733-121824850	HepG2	liver:	n/a	chr8:121821943-121821952
15	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
16	POLR2A	chr8:121823159-121824066	HepG2	liver:	n/a	n/a
17	EP300	chr8:121823130-121823711	HepG2	liver:	n/a	n/a
18	NFIC	chr8:121821474-121823786	HepG2	liver:	n/a	n/a
19	MYC	chr8:121823382-121823974	MCF-7	breast:	n/a	n/a
20	CHD1	chr8:121823521-121823710	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
23	GTF2F1	chr8:121823416-121823750	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr8:121823517-121823717	H1-hESC	embryonic stem cell:	n/a	n/a
25	YY1	chr8:121823216-121824791	HepG2	liver:	n/a	chr8:121824483-121824497 chr8:121824073-121824093 chr8:121824611-121824622
26	SIN3A	chr8:121823412-121824978	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr8:121821944-121824445	IMR90	lung:	n/a	n/a
28	RFX5	chr8:121823648-121823969	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:121823205-121824840	NB4	blood:	n/a	n/a
30	CHD2	chr8:121822612-121823819	HepG2	liver:	n/a	n/a
31	REST	chr8:121821644-121823951	HepG2	liver:	n/a	n/a
32	POLR2A	chr8:121823465-121823815	MCF-7	breast:	n/a	n/a
33	TAF1	chr8:121823086-121824874	HepG2	liver:	n/a	n/a
34	TAF1	chr8:121823137-121824819	HepG2	liver:	n/a	n/a
35	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
36	E2F6	chr8:121823189-121825093	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
37	MYBL2	chr8:121821673-121823814	HepG2	liver:	n/a	n/a
38	FOSL2	chr8:121823244-121823713	HepG2	liver:	n/a	chr8:121823372-121823381 chr8:121823373-121823382
39	TBP	chr8:121821331-121823934	HepG2	liver:	n/a	n/a
40	CHD2	chr8:121823386-121823725	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
42	TEAD4	chr8:121823291-121823701	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr8:121823307-121823720	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr8:121823389-121824733	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr8:121823261-121823893	NB4	blood:	n/a	n/a
46	MAX	chr8:121823227-121823819	ECC-1	luminal epithelium:	n/a	n/a
47	HDAC2	chr8:121822811-121824834	MCF-7	breast:	n/a	n/a
48	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
49	POLR2A	chr8:121823223-121824869	HL-60	blood:	n/a	n/a
50	POLR2A	chr8:121821819-121824069	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	chr8:121821000-121824000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr8:121821000-121824200	Active TSS	Fetal Muscle Leg	muscle
11	chr8:121821000-121824600	Active TSS	Primary T cells fromperipheralblood	blood
12	chr8:121821000-121824600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr8:121821000-121824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121821000-121824800	Active TSS	Aorta	Aorta
15	chr8:121821000-121824800	Active TSS	NHDF-Ad	bronchial
16	chr8:121821200-121824600	Active TSS	Psoas Muscle	Psoas
17	chr8:121821400-121824400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:121821400-121824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:121821400-121824600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:121821400-121824600	Active TSS	Brain Substantia Nigra	brain
21	chr8:121821400-121824600	Active TSS	Colon Smooth Muscle	Colon
22	chr8:121821400-121824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr8:121821400-121824800	Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr8:121821600-121824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr8:121821600-121824400	Active TSS	HSMM	muscle
26	chr8:121821600-121824600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:121821600-121824600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr8:121821800-121823800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:121821800-121824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:121822000-121823800	Flanking Active TSS	Placenta	Placenta
31	chr8:121822000-121824000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:121822000-121824600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:121822000-121824800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr8:121822000-121824800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:121822000-121824800	Active TSS	Gastric	stomach
36	chr8:121822000-121824800	Active TSS	Lung	lung
37	chr8:121822200-121823800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:121822200-121823800	Bivalent/Poised TSS	HepG2	liver
39	chr8:121822200-121824400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:121822200-121824400	Active TSS	Osteobl	bone
41	chr8:121822200-121824600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:121822200-121824600	Active TSS	Esophagus	oesophagus
43	chr8:121822200-121824600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:121822200-121824600	Active TSS	Left Ventricle	heart
45	chr8:121822200-121825000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr8:121822200-121825000	Active TSS	Pancreas	Pancrea
47	chr8:121822400-121824400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:121822400-121825000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr8:121822400-121825000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:121822600-121824200	Active TSS	Fetal Intestine Small	intestine

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