Variant report

Variant	rs552728828
Chromosome Location	chr8:1922313-1922314
allele	C/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	POLR2A	chr8:1921236-1923740	H1-neurons	neurons:	n/a	n/a
2	REST	chr8:1921745-1924695	H1-neurons	neurons:	n/a	chr8:1922723-1922743 chr8:1921892-1921905 chr8:1921938-1921951 chr8:1922973-1922986 chr8:1922714-1922724 chr8:1923948-1923956
3	POLR2A	chr8:1922190-1924413	SK-N-MC	brain:	n/a	n/a
4	ZBTB7A	chr8:1921406-1922941	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817
5	POLR2A	chr8:1921696-1923754	H1-neurons	neurons:	n/a	n/a
6	EGR1	chr8:1922299-1922715	H1-hESC	embryonic stem cell:	n/a	chr8:1922498-1922511 chr8:1922498-1922511 chr8:1922345-1922358 chr8:1922499-1922508 chr8:1922498-1922511 chr8:1922483-1922493 chr8:1922498-1922511
7	ZBTB7A	chr8:1921283-1923060	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817

Variant related genes	Relation type
ENSG00000270988	TF binding region
ENSG00000253764	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv1015930	chr8:1919596-1952936	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv1839364	chr8:1920461-1951163	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers 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
21	esv3489278	chr8:1921020-1923843	Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	esv3489279	chr8:1921020-1923843	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	esv3326517	chr8:1921070-1924118	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
24	esv3389371	chr8:1921945-1923593	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1919600-1923000	Active TSS	Duodenum Mucosa	Duodenum
2	chr8:1919800-1923200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr8:1920000-1922400	Active TSS	Colonic Mucosa	Colon
4	chr8:1920600-1922800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:1921000-1922600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:1921000-1922800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:1921000-1922800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
11	chr8:1921000-1923000	Active TSS	Brain Substantia Nigra	brain
12	chr8:1921000-1923200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:1921000-1923200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:1921000-1923200	Active TSS	Aorta	Aorta
15	chr8:1921000-1923200	Active TSS	Brain Angular Gyrus	brain
16	chr8:1921000-1923200	Active TSS	Brain Anterior Caudate	brain
17	chr8:1921000-1923200	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:1921000-1923200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:1921000-1923200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:1921000-1923200	Active TSS	Ovary	ovary
21	chr8:1921000-1923200	Active TSS	Psoas Muscle	Psoas
22	chr8:1921000-1923200	Active TSS	Right Ventricle	heart
23	chr8:1921000-1923400	Active TSS	Pancreas	Pancrea
24	chr8:1921000-1923400	Active TSS	Right Atrium	heart
25	chr8:1921000-1923600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:1921200-1922600	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr8:1921200-1922600	Active TSS	Brain Hippocampus Middle	brain
28	chr8:1921200-1922800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:1921200-1922800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:1921200-1922800	Active TSS	Gastric	stomach
31	chr8:1921200-1922800	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr8:1921200-1923000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:1921200-1923000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:1921200-1923000	Active TSS	Fetal Intestine Small	intestine
35	chr8:1921200-1923400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:1921200-1923400	Active TSS	Fetal Intestine Large	intestine
37	chr8:1921200-1923400	Active TSS	Lung	lung
38	chr8:1921400-1922400	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr8:1921400-1922600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:1921400-1922600	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr8:1921400-1922600	Active TSS	Spleen	Spleen
42	chr8:1921400-1922800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:1921400-1922800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:1921400-1922800	Active TSS	Fetal Stomach	stomach
45	chr8:1921400-1922800	Active TSS	Small Intestine	intestine
46	chr8:1921400-1923000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:1921400-1923000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr8:1921400-1923000	Active TSS	Rectal Smooth Muscle	rectum
49	chr8:1921400-1923000	Active TSS	A549	lung
50	chr8:1921400-1923200	Active TSS	Left Ventricle	heart

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