Variant report

Variant	rs183206050
Chromosome Location	chr8:121823194-121823195
allele	A/G
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	STAT3	chr8:121822882-121823214	MCF10A-Er-Src	breast:	n/a	chr8:121823196-121823207
3	POLR2A	chr8:121821861-121823459	U87	brain:	n/a	n/a
4	POLR2A	chr8:121822761-121823277	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:121821718-121824797	H1-hESC	embryonic stem cell:	n/a	n/a
6	ARID3A	chr8:121823133-121823596	HepG2	liver:	n/a	n/a
7	GTF2F1	chr8:121823065-121823194	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr8:121822889-121823752	HepG2	liver:	n/a	n/a
9	MXI1	chr8:121821733-121824850	HepG2	liver:	n/a	chr8:121821943-121821952
10	TEAD4	chr8:121820600-121823717	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:121823159-121824066	HepG2	liver:	n/a	n/a
12	EP300	chr8:121823130-121823711	HepG2	liver:	n/a	n/a
13	NFIC	chr8:121821474-121823786	HepG2	liver:	n/a	n/a
14	MBD4	chr8:121820544-121823336	HepG2	liver:	n/a	n/a
15	E2F4	chr8:121822932-121823205	MCF10A-Er-Src	breast:	n/a	n/a
16	BHLHE40	chr8:121820917-121823751	GM12878	blood:	n/a	n/a
17	FOS	chr8:121822869-121823207	MCF10A-Er-Src	breast:	n/a	chr8:121823005-121823016
18	CEBPD	chr8:121823161-121823642	HepG2	liver:	n/a	n/a
19	POLR2A	chr8:121820609-121823747	HepG2	liver:	n/a	n/a
20	NFIC	chr8:121820705-121823691	HepG2	liver:	n/a	n/a
21	EBF1	chr8:121820847-121823655	GM12878	blood:	n/a	chr8:121822673-121822684
22	MAZ	chr8:121820883-121823587	GM12878	blood:	n/a	chr8:121822162-121822171
23	CHD1	chr8:121822944-121823285	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr8:121821944-121824445	IMR90	lung:	n/a	n/a
25	CHD2	chr8:121822612-121823819	HepG2	liver:	n/a	n/a
26	REST	chr8:121821644-121823951	HepG2	liver:	n/a	n/a
27	POLR2A	chr8:121820882-121823259	PBDE	blood:	n/a	n/a
28	SIN3A	chr8:121821929-121823212	H1-hESC	embryonic stem cell:	n/a	n/a
29	HDAC2	chr8:121823150-121823679	HepG2	liver:	n/a	n/a
30	RCOR1	chr8:121821486-121823676	HepG2	liver:	n/a	n/a
31	TAF1	chr8:121823086-121824874	HepG2	liver:	n/a	n/a
32	TAF1	chr8:121823137-121824819	HepG2	liver:	n/a	n/a
33	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
34	E2F6	chr8:121823189-121825093	H1-hESC	embryonic stem cell:	n/a	chr8:121824483-121824493
35	MYBL2	chr8:121821673-121823814	HepG2	liver:	n/a	n/a
36	TBP	chr8:121821331-121823934	HepG2	liver:	n/a	n/a
37	FOS	chr8:121822867-121823196	HUVEC	blood vessel:	n/a	chr8:121823005-121823016
38	POLR2A	chr8:121820347-121826968	HepG2	liver:	n/a	n/a
39	MBD4	chr8:121821707-121823669	HepG2	liver:	n/a	n/a
40	STAT3	chr8:121822872-121823207	MCF10A-Er-Src	breast:	n/a	chr8:121823196-121823207
41	MAZ	chr8:121823161-121823678	HepG2	liver:	n/a	n/a
42	EP300	chr8:121821777-121823612	HepG2	liver:	n/a	chr8:121822508-121822522 chr8:121822020-121822030 chr8:121822246-121822255 chr8:121821784-121821798
43	HDAC2	chr8:121822811-121824834	MCF-7	breast:	n/a	n/a
44	STAT3	chr8:121822873-121823207	MCF10A-Er-Src	breast:	n/a	chr8:121823196-121823207
45	POLR2A	chr8:121820451-121826897	HepG2	liver:	n/a	n/a
46	RAD21	chr8:121822514-121823239	IMR90	lung:	n/a	n/a
47	RXRA	chr8:121823133-121823621	HepG2	liver:	n/a	n/a
48	POLR2A	chr8:121821819-121824069	HepG2	liver:	n/a	n/a
49	MAX	chr8:121821607-121824778	HepG2	liver:	n/a	chr8:121822162-121822171 chr8:121824141-121824151
50	FOXA1	chr8:121823058-121823704	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:121 , 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	chr8:121820600-121823400	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:121820600-121823400	Flanking Active TSS	GM12878-XiMat	blood
4	chr8:121820600-121824000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:121820600-121825000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr8:121820600-121825000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:121820800-121823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:121820800-121823400	Active TSS	Colonic Mucosa	Colon
9	chr8:121820800-121824600	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:121820800-121824600	Active TSS	NHLF	lung
11	chr8:121820800-121824800	Active TSS	Right Atrium	heart
12	chr8:121820800-121824800	Active TSS	HSMMtube	muscle
13	chr8:121821000-121823200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr8:121821000-121823400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr8:121821000-121823400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
16	chr8:121821000-121823600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:121821000-121824000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr8:121821000-121824200	Active TSS	Fetal Muscle Leg	muscle
19	chr8:121821000-121824600	Active TSS	Primary T cells fromperipheralblood	blood
20	chr8:121821000-121824600	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr8:121821000-121824800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:121821000-121824800	Active TSS	Aorta	Aorta
23	chr8:121821000-121824800	Active TSS	NHDF-Ad	bronchial
24	chr8:121821200-121823200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:121821200-121823200	Active TSS	Fetal Muscle Trunk	muscle
26	chr8:121821200-121823200	Flanking Active TSS	Thymus	Thymus
27	chr8:121821200-121824600	Active TSS	Psoas Muscle	Psoas
28	chr8:121821400-121823400	Active TSS	Right Ventricle	heart
29	chr8:121821400-121824400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:121821400-121824600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121821400-121824600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:121821400-121824600	Active TSS	Brain Substantia Nigra	brain
33	chr8:121821400-121824600	Active TSS	Colon Smooth Muscle	Colon
34	chr8:121821400-121824800	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr8:121821400-121824800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr8:121821600-121824200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr8:121821600-121824400	Active TSS	HSMM	muscle
38	chr8:121821600-121824600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:121821600-121824600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr8:121821800-121823200	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr8:121821800-121823200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr8:121821800-121823400	Flanking Active TSS	Fetal Thymus	thymus
43	chr8:121821800-121823600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:121821800-121823800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:121821800-121824200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:121822000-121823200	Flanking Active TSS	Liver	Liver
47	chr8:121822000-121823400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:121822000-121823800	Flanking Active TSS	Placenta	Placenta
49	chr8:121822000-121824000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:121822000-121824600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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