Variant report

Variant	rs543916738
Chromosome Location	chr8:63998629-63998630
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	POLR2A	chr8:63998480-63998804	ProgFib	skin:	n/a	n/a
2	MAX	chr8:63998121-63999294	ECC-1	luminal epithelium:	n/a	chr8:63998228-63998237
3	RAD21	chr8:63998390-63998835	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr8:63998513-63998694	HepG2	liver:	n/a	n/a
5	GABPA	chr8:63998304-63998809	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr8:63998315-63999259	A549	lung:	n/a	n/a
7	POLR2A	chr8:63998489-63998802	MCF-7	breast:	n/a	n/a
8	POLR2A	chr8:63998399-63998697	HCT-116	colon:	n/a	n/a
9	POLR2A	chr8:63998421-63998748	HCT-116	colon:	n/a	n/a
10	SIN3A	chr8:63998090-63999166	H1-hESC	embryonic stem cell:	n/a	chr8:63998665-63998678
11	MAX	chr8:63998463-63998832	SK-N-SH	brain:	n/a	n/a
12	TBP	chr8:63998481-63998703	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:63998466-63998675	A549	lung:	n/a	n/a
14	POLR2A	chr8:63998322-63998769	MCF-7	breast:	n/a	n/a
15	E2F6	chr8:63998426-63998850	A549	lung:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
16	MAX	chr8:63998358-63999259	A549	lung:	n/a	n/a
17	CTBP2	chr8:63998443-63999051	H1-hESC	embryonic stem cell:	n/a	n/a
18	HDAC2	chr8:63998321-63998641	HepG2	liver:	n/a	n/a
19	YY1	chr8:63998229-63998775	HepG2	liver:	n/a	chr8:63998581-63998590 chr8:63998581-63998595
20	HA-E2F1	chr8:63997886-63999102	MCF-7	breast:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
21	MYC	chr8:63998628-63998726	MCF-7	breast:	n/a	n/a
22	FOXA1	chr8:63998511-63998759	T-47D	breast:	n/a	n/a
23	POLR2A	chr8:63998523-63998710	MCF-7	breast:	n/a	n/a
24	E2F6	chr8:63998219-63998842	H1-hESC	embryonic stem cell:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
25	MAX	chr8:63998200-63998872	H1-hESC	embryonic stem cell:	n/a	chr8:63998228-63998237
26	POLR2A	chr8:63998414-63998779	A549	lung:	n/a	n/a
27	POLR2A	chr8:63997488-63999101	HepG2	liver:	n/a	n/a
28	MYC	chr8:63998376-63998750	MCF-7	breast:	n/a	n/a
29	POLR2A	chr8:63998438-63998696	A549	lung:	n/a	n/a
30	TBP	chr8:63998253-63999043	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr8:63998459-63998876	HepG2	liver:	n/a	n/a
32	BACH1	chr8:63998473-63998876	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr8:63998442-63998745	A549	lung:	n/a	n/a
34	SIN3AK20	chr8:63998415-63998894	PANC-1	pancreas:	n/a	n/a
35	ZNF263	chr8:63998426-63998916	HEK293-T-REx	kidney:	n/a	n/a
36	POLR2A	chr8:63998373-63998797	A549	lung:	n/a	n/a
37	MAX	chr8:63998100-63998875	MCF-7	breast:	n/a	chr8:63998228-63998237
38	FOXP2	chr8:63998241-63998774	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr8:63998334-63998795	ECC-1	luminal epithelium:	n/a	n/a
40	E2F6	chr8:63998399-63998986	A549	lung:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
41	MAX	chr8:63998431-63998897	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr8:63998448-63999256	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr8:63998429-63998997	HCT-116	colon:	n/a	n/a
44	YY1	chr8:63998417-63998803	H1-hESC	embryonic stem cell:	n/a	chr8:63998581-63998590 chr8:63998581-63998595
45	E2F4	chr8:63998553-63998704	MCF10A-Er-Src	breast:	n/a	chr8:63998582-63998592 chr8:63998624-63998638 chr8:63998581-63998590
46	EBF1	chr8:63998480-63998759	GM12878	blood:	n/a	n/a
47	CHD1	chr8:63998425-63998807	H1-hESC	embryonic stem cell:	n/a	chr8:63998633-63998643
48	POLR2A	chr8:63998369-63998872	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr8:63998567-63999061	MCF10A-Er-Src	breast:	n/a	n/a
50	TAF1	chr8:63998320-63998833	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:63949699..63952423-chr8:63997523..63999992,2	K562	blood:

Variant related genes	Relation type
TTPA	TF binding region
ENSG00000137563	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv465701	chr8:63951237-64080486	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv611448	chr8:63951237-64080486	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3373017	chr8:63989447-64014250	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3445521	chr8:63989447-64017270	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3445164	chr8:63997798-63999646	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63997200-63998800	Active TSS	Liver	Liver
2	chr8:63997400-63998800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:63997400-63999200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:63997400-63999200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:63997600-63999000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:63997600-63999000	Active TSS	A549	lung
7	chr8:63997600-63999200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:63997600-63999200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:63997600-63999200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:63997600-63999200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
11	chr8:63997600-63999200	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:63997600-63999200	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:63997600-64000000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr8:63997800-63998800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:63997800-63998800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr8:63997800-63998800	Active TSS	Placenta	Placenta
17	chr8:63997800-63999000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:63997800-63999000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr8:63997800-63999000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:63997800-63999000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:63997800-63999000	Active TSS	Colonic Mucosa	Colon
22	chr8:63997800-63999000	Active TSS	Fetal Intestine Small	intestine
23	chr8:63997800-63999000	Active TSS	Fetal Kidney	kidney
24	chr8:63997800-63999000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
25	chr8:63997800-63999000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr8:63997800-63999200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
27	chr8:63997800-63999200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:63997800-63999200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:63997800-63999200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:63997800-63999200	Active TSS	Brain Angular Gyrus	brain
32	chr8:63997800-63999200	Active TSS	Colon Smooth Muscle	Colon
33	chr8:63997800-63999200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr8:63997800-63999200	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:63997800-63999200	Bivalent/Poised TSS	NHLF	lung
36	chr8:63997800-63999200	Bivalent/Poised TSS	Osteobl	bone
37	chr8:63997800-63999400	Active TSS	Aorta	Aorta
38	chr8:63997800-63999600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:63998000-63998800	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:63998000-63998800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:63998000-63998800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr8:63998000-63998800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr8:63998000-63998800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:63998000-63998800	Bivalent/Poised TSS	Fetal Stomach	stomach
45	chr8:63998000-63998800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr8:63998000-63999000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:63998000-63999000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr8:63998000-63999000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:63998000-63999000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:63998000-63999000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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