Variant report

Variant	rs528172482
Chromosome Location	chr8:1921891-1921892
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	TBP	chr8:1921656-1922031	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr8:1921164-1922053	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
3	POLR2A	chr8:1921556-1922232	MCF-7	breast:	n/a	n/a
4	MYC	chr8:1921446-1921971	H1-hESC	embryonic stem cell:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
5	POLR2A	chr8:1921817-1922153	A549	lung:	n/a	n/a
6	TCF12	chr8:1921104-1922231	ECC-1	luminal epithelium:	n/a	chr8:1921349-1921359
7	MAX	chr8:1921514-1922242	ECC-1	luminal epithelium:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
8	USF2	chr8:1921724-1922031	H1-hESC	embryonic stem cell:	n/a	chr8:1921728-1921744 chr8:1922002-1922018 chr8:1921937-1921953
9	POLR2A	chr8:1921236-1923740	H1-neurons	neurons:	n/a	n/a
10	HMGN3	chr8:1921641-1922029	K562	blood:	n/a	n/a
11	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
12	POLR2A	chr8:1921116-1922244	HL-60	blood:	n/a	n/a
13	POLR2A	chr8:1921527-1922214	HCT-116	colon:	n/a	n/a
14	FOXP2	chr8:1921591-1922195	PFSK-1	brain:	n/a	n/a
15	YY1	chr8:1921863-1922253	ECC-1	luminal epithelium:	n/a	n/a
16	MAZ	chr8:1921665-1922029	K562	blood:	n/a	chr8:1921694-1921703 chr8:1921935-1921944
17	EGR1	chr8:1921513-1922144	MCF-7	breast:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
18	POLR2A	chr8:1921578-1922142	HCT-116	colon:	n/a	n/a
19	MAFK	chr8:1921830-1922030	HepG2	liver:	n/a	n/a
20	POLR2A	chr8:1921506-1922168	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr8:1921819-1922131	MCF-7	breast:	n/a	chr8:1921935-1921944
22	REST	chr8:1921109-1922191	HL-60	blood:	n/a	chr8:1921892-1921905 chr8:1921938-1921951 chr8:1921700-1921714 chr8:1921137-1921157 chr8:1921359-1921377 chr8:1921137-1921157
23	EGR1	chr8:1921788-1922060	K562	blood:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
24	ZBTB7A	chr8:1921406-1922941	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817
25	TAF1	chr8:1921163-1922259	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr8:1921065-1922184	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr8:1921849-1922153	A549	lung:	n/a	n/a
28	EGR1	chr8:1921306-1922283	HCT-116	colon:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
29	POLR2A	chr8:1921835-1922157	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr8:1921830-1922030	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr8:1921666-1922094	H1-hESC	embryonic stem cell:	n/a	chr8:1921694-1921703 chr8:1921935-1921944
32	RCOR1	chr8:1921830-1922029	HepG2	liver:	n/a	n/a
33	EGR1	chr8:1921780-1922071	K562	blood:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
34	CCNT2	chr8:1921657-1922031	K562	blood:	n/a	n/a
35	POLR2A	chr8:1920928-1922083	MCF10A-Er-Src	breast:	n/a	n/a
36	UBTF	chr8:1921853-1921994	K562	blood:	n/a	n/a
37	RFX5	chr8:1921830-1922030	HepG2	liver:	n/a	n/a
38	SIN3A	chr8:1921182-1922135	H1-hESC	embryonic stem cell:	n/a	chr8:1921926-1921937
39	EGR1	chr8:1921750-1922123	H1-hESC	embryonic stem cell:	n/a	chr8:1921928-1921950 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
40	BACH1	chr8:1921474-1922031	H1-hESC	embryonic stem cell:	n/a	n/a
41	TBL1XR1	chr8:1921831-1921933	K562	blood:	n/a	n/a
42	POLR2A	chr8:1921696-1923754	H1-neurons	neurons:	n/a	n/a
43	EGR1	chr8:1921398-1922134	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
44	MAX	chr8:1921159-1922184	A549	lung:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
45	POLR2A	chr8:1921145-1922278	HL-60	blood:	n/a	n/a
46	POLR2A	chr8:1921759-1922234	A549	lung:	n/a	n/a
47	RFX5	chr8:1921592-1922029	H1-hESC	embryonic stem cell:	n/a	n/a
48	NRF1	chr8:1921828-1922221	H1-hESC	embryonic stem cell:	n/a	chr8:1922030-1922044 chr8:1922027-1922041 chr8:1922030-1922041 chr8:1922030-1922039 chr8:1922032-1922041
49	EGR1	chr8:1921324-1922126	ECC-1	luminal epithelium:	n/a	chr8:1921928-1921950 chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921933-1921946 chr8:1921933-1921946 chr8:1921921-1921934 chr8:1921658-1921668 chr8:1922031-1922040 chr8:1921934-1921943 chr8:1921934-1921945 chr8:1921933-1921946 chr8:1921661-1921671 chr8:1921934-1921944 chr8:1921933-1921946 chr8:1921932-1921946 chr8:1921934-1921944 chr8:1921934-1921945
50	POLR2A	chr8:1921873-1921986	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
KBTBD11	TF binding region
ENSG00000253764	TF binding region
ENSG00000270988	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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

No data

Chromatin state (count:116 , 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	chr8:1920800-1922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:1920800-1922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:1921000-1922000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:1921000-1922600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:1921000-1922800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1921000-1922800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
14	chr8:1921000-1923000	Active TSS	Brain Substantia Nigra	brain
15	chr8:1921000-1923200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:1921000-1923200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:1921000-1923200	Active TSS	Aorta	Aorta
18	chr8:1921000-1923200	Active TSS	Brain Angular Gyrus	brain
19	chr8:1921000-1923200	Active TSS	Brain Anterior Caudate	brain
20	chr8:1921000-1923200	Active TSS	Brain Cingulate Gyrus	brain
21	chr8:1921000-1923200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr8:1921000-1923200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:1921000-1923200	Active TSS	Ovary	ovary
24	chr8:1921000-1923200	Active TSS	Psoas Muscle	Psoas
25	chr8:1921000-1923200	Active TSS	Right Ventricle	heart
26	chr8:1921000-1923400	Active TSS	Pancreas	Pancrea
27	chr8:1921000-1923400	Active TSS	Right Atrium	heart
28	chr8:1921000-1923600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:1921200-1922200	Active TSS	Hela-S3	cervix
30	chr8:1921200-1922600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr8:1921200-1922600	Active TSS	Brain Hippocampus Middle	brain
32	chr8:1921200-1922800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:1921200-1922800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr8:1921200-1922800	Active TSS	Gastric	stomach
35	chr8:1921200-1922800	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr8:1921200-1923000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:1921200-1923000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:1921200-1923000	Active TSS	Fetal Intestine Small	intestine
39	chr8:1921200-1923400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:1921200-1923400	Active TSS	Fetal Intestine Large	intestine
41	chr8:1921200-1923400	Active TSS	Lung	lung
42	chr8:1921400-1922000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:1921400-1922000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1921400-1922200	Bivalent/Poised TSS	NHLF	lung
45	chr8:1921400-1922400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr8:1921400-1922600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:1921400-1922600	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:1921400-1922600	Active TSS	Spleen	Spleen
49	chr8:1921400-1922800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:1921400-1922800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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