Variant report

Variant	rs16889283
Chromosome Location	chr8:117950768-117950769
allele	C/G/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	POLR2A	chr8:117949985-117951195	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:117950444-117950916	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:117950483-117950918	MCF-7	breast:	n/a	n/a
4	HMGN3	chr8:117950736-117951003	K562	blood:	n/a	n/a
5	MYC	chr8:117950458-117950978	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:117950451-117950836	T-47D	breast:	n/a	n/a
7	POLR2A	chr8:117950480-117950898	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr8:117949982-117951070	U87	brain:	n/a	n/a
9	CTCF	chr8:117950506-117950816	GM12878	blood:	n/a	n/a
10	YY1	chr8:117949948-117951111	H1-hESC	embryonic stem cell:	n/a	chr8:117951002-117951013 chr8:117950395-117950404 chr8:117951001-117951010
11	E2F6	chr8:117950252-117951162	H1-hESC	embryonic stem cell:	n/a	chr8:117951001-117951010 chr8:117950787-117950802
12	POLR2A	chr8:117950407-117951006	ECC-1	luminal epithelium:	n/a	n/a
13	JUND	chr8:117950763-117950879	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr8:117950362-117950929	U87	brain:	n/a	n/a
15	MAX	chr8:117950371-117951060	ECC-1	luminal epithelium:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
16	POLR2A	chr8:117950252-117951064	U87	brain:	n/a	n/a
17	CTCF	chr8:117950520-117950902	MCF-7	breast:	n/a	n/a
18	POLR2A	chr8:117950364-117951046	PFSK-1	brain:	n/a	n/a
19	RAD21	chr8:117950466-117950885	H1-hESC	embryonic stem cell:	n/a	n/a
20	PAX5	chr8:117950522-117950819	GM12892	blood:	n/a	n/a
21	EP300	chr8:117950510-117950905	H1-hESC	embryonic stem cell:	n/a	n/a
22	TBP	chr8:117950252-117951065	H1-hESC	embryonic stem cell:	n/a	n/a
23	UBTF	chr8:117950569-117950769	K562	blood:	n/a	n/a
24	TCF12	chr8:117950410-117950979	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr8:117950438-117950896	Gliobla	brain:	n/a	n/a
26	CTCF	chr8:117950475-117950892	K562	blood:	n/a	n/a
27	CTCF	chr8:117950497-117950886	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr8:117950438-117950955	A549	lung:	n/a	n/a
29	HA-E2F1	chr8:117949690-117951208	MCF-7	breast:	n/a	chr8:117951001-117951010
30	E2F6	chr8:117950482-117950858	A549	lung:	n/a	chr8:117950787-117950802
31	MAX	chr8:117950404-117951267	ECC-1	luminal epithelium:	n/a	chr8:117950999-117951009
32	FOXP2	chr8:117950519-117950908	PFSK-1	brain:	n/a	n/a
33	ZNF143	chr8:117950418-117951184	H1-hESC	embryonic stem cell:	n/a	chr8:117950994-117951012
34	EP300	chr8:117950361-117951097	ECC-1	luminal epithelium:	n/a	n/a
35	RAD21	chr8:117950423-117950820	ECC-1	luminal epithelium:	n/a	n/a
36	ZBTB7A	chr8:117950648-117951058	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr8:117950157-117951137	MCF-7	breast:	n/a	chr8:117950999-117951009 chr8:117950397-117950407
38	CTCF	chr8:117950700-117950850	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:117950544-117950807	Fibrobl	skin:	n/a	n/a
40	POLR2A	chr8:117950520-117950875	H1-neurons	neurons:	n/a	n/a
41	CTCF	chr8:117950740-117950890	HFF	foreskin:	n/a	n/a
42	CEBPB	chr8:117950760-117950785	H1-hESC	embryonic stem cell:	n/a	n/a
43	E2F6	chr8:117950506-117950812	K562	blood:	n/a	chr8:117950787-117950802
44	CTCF	chr8:117950620-117950770	SAEC	small airway:	n/a	n/a
45	MYC	chr8:117950500-117950822	MCF-7	breast:	n/a	n/a
46	POLR2A	chr8:117950438-117950846	H1-hESC	embryonic stem cell:	n/a	n/a
47	E2F4	chr8:117950497-117950862	MCF10A-Er-Src	breast:	n/a	chr8:117950787-117950802
48	TAF1	chr8:117950550-117950900	ECC-1	luminal epithelium:	n/a	n/a
49	E2F6	chr8:117950452-117951026	H1-hESC	embryonic stem cell:	n/a	chr8:117951001-117951010 chr8:117950787-117950802
50	MAX	chr8:117950232-117950983	H1-hESC	embryonic stem cell:	n/a	chr8:117950397-117950407

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117950738..117952967-chr8:117961250..117964498,3	MCF-7	breast:

Variant related genes	Relation type
AARD	TF binding region
ENSG00000164756	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1348794	0.84[ASN][1000 genomes]
rs16889293	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2860414	0.84[ASN][1000 genomes]
rs2921723	0.84[ASN][1000 genomes]
rs3020176	0.84[ASN][1000 genomes]
rs3020179	0.84[ASN][1000 genomes]
rs3020180	0.85[ASN][1000 genomes]
rs66849010	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6998067	0.91[EUR][1000 genomes]
rs977700	0.84[ASN][1000 genomes]
rs9918796	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117949600-117951000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr8:117949600-117951200	Active TSS	Colon Smooth Muscle	Colon
3	chr8:117949800-117950800	Enhancers	Gastric	stomach
4	chr8:117949800-117951200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:117949800-117951200	Active TSS	Rectal Smooth Muscle	rectum
6	chr8:117949800-117951400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:117949800-117951400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:117949800-117951400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:117949800-117951400	Active TSS	Stomach Smooth Muscle	stomach
10	chr8:117950000-117950800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:117950000-117951000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:117950000-117951000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr8:117950000-117951000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:117950000-117951200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:117950000-117951200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:117950000-117951200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:117950000-117951200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:117950000-117951200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:117950000-117951200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:117950000-117951200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr8:117950000-117951200	Active TSS	Fetal Kidney	kidney
22	chr8:117950000-117951200	Active TSS	HMEC	breast
23	chr8:117950000-117951200	Active TSS	NH-A	brain
24	chr8:117950000-117951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:117950000-117951400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:117950000-117951400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:117950000-117952000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:117950200-117950800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:117950200-117950800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr8:117950200-117950800	Bivalent/Poised TSS	Placenta	Placenta
31	chr8:117950200-117950800	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr8:117950200-117950800	Bivalent/Poised TSS	HUVEC	blood vessel
33	chr8:117950200-117950800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
34	chr8:117950200-117951000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:117950200-117951000	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:117950200-117951000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:117950200-117951000	Bivalent/Poised TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:117950200-117951000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr8:117950200-117951000	Active TSS	Aorta	Aorta
40	chr8:117950200-117951000	Active TSS	Brain Hippocampus Middle	brain
41	chr8:117950200-117951000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:117950200-117951000	Active TSS	Brain Substantia Nigra	brain
43	chr8:117950200-117951000	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr8:117950200-117951000	Bivalent/Poised TSS	Left Ventricle	heart
45	chr8:117950200-117951000	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr8:117950200-117951000	Bivalent/Poised TSS	NHLF	lung
47	chr8:117950200-117951000	Bivalent/Poised TSS	Osteobl	bone
48	chr8:117950200-117951200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:117950200-117951200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:117950200-117951200	Active TSS	HUES6 Cell Line	embryonic stem cell

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