Variant report

Variant	rs561333116
Chromosome Location	chr8:1921725-1921726
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	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	TCF12	chr8:1921104-1922231	ECC-1	luminal epithelium:	n/a	chr8:1921349-1921359
6	MAX	chr8:1921514-1922242	ECC-1	luminal epithelium:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
7	USF2	chr8:1921724-1922031	H1-hESC	embryonic stem cell:	n/a	chr8:1921728-1921744 chr8:1922002-1922018 chr8:1921937-1921953
8	POLR2A	chr8:1921236-1923740	H1-neurons	neurons:	n/a	n/a
9	HMGN3	chr8:1921641-1922029	K562	blood:	n/a	n/a
10	POLR2A	chr8:1921116-1922244	HL-60	blood:	n/a	n/a
11	POLR2A	chr8:1921527-1922214	HCT-116	colon:	n/a	n/a
12	FOXP2	chr8:1921591-1922195	PFSK-1	brain:	n/a	n/a
13	MAZ	chr8:1921665-1922029	K562	blood:	n/a	chr8:1921694-1921703 chr8:1921935-1921944
14	MAZ	chr8:1921658-1921858	HepG2	liver:	n/a	chr8:1921658-1921667 chr8:1921694-1921703
15	EGR1	chr8:1921455-1921784	K562	blood:	n/a	chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921658-1921668 chr8:1921661-1921671
16	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
17	POLR2A	chr8:1921578-1922142	HCT-116	colon:	n/a	n/a
18	POLR2A	chr8:1921506-1922168	ECC-1	luminal epithelium:	n/a	n/a
19	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
20	ZBTB7A	chr8:1921406-1922941	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817
21	CTCF	chr8:1921700-1921850	SK-N-SH_RA	brain:	n/a	chr8:1921786-1921799 chr8:1921788-1921798
22	TAF1	chr8:1921163-1922259	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr8:1921065-1922184	SK-N-MC	brain:	n/a	n/a
24	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
25	MAX	chr8:1921666-1922094	H1-hESC	embryonic stem cell:	n/a	chr8:1921694-1921703 chr8:1921935-1921944
26	EGR1	chr8:1921524-1921777	K562	blood:	n/a	chr8:1921656-1921669 chr8:1921656-1921670 chr8:1921658-1921668 chr8:1921661-1921671
27	CCNT2	chr8:1921657-1922031	K562	blood:	n/a	n/a
28	POLR2A	chr8:1920928-1922083	MCF10A-Er-Src	breast:	n/a	n/a
29	SIN3A	chr8:1921182-1922135	H1-hESC	embryonic stem cell:	n/a	chr8:1921926-1921937
30	BACH1	chr8:1921474-1922031	H1-hESC	embryonic stem cell:	n/a	n/a
31	TBP	chr8:1921656-1921858	HepG2	liver:	n/a	n/a
32	POLR2A	chr8:1921696-1923754	H1-neurons	neurons:	n/a	n/a
33	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
34	MAX	chr8:1921159-1922184	A549	lung:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
35	POLR2A	chr8:1921145-1922278	HL-60	blood:	n/a	n/a
36	RFX5	chr8:1921592-1922029	H1-hESC	embryonic stem cell:	n/a	n/a
37	HDAC2	chr8:1921531-1921792	H1-hESC	embryonic stem cell:	n/a	chr8:1921658-1921667
38	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
39	TBP	chr8:1921658-1921858	K562	blood:	n/a	n/a
40	TAF1	chr8:1921697-1922175	H1-neurons	neurons:	n/a	n/a
41	ZBTB7A	chr8:1921283-1923060	ECC-1	luminal epithelium:	n/a	chr8:1922191-1922202 chr8:1921791-1921800 chr8:1922810-1922817
42	NRF1	chr8:1921632-1922272	SK-N-SH	brain:	n/a	chr8:1922030-1922044 chr8:1922027-1922041 chr8:1922030-1922041 chr8:1921732-1921746 chr8:1922030-1922039 chr8:1922032-1922041
43	EGR1	chr8:1921448-1922188	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
44	MYC	chr8:1921132-1921984	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
45	POLR2A	chr8:1921170-1922135	NB4	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD1-7	chr8:1921314-1921776	ENSG00000253764.1

Variant related genes	Relation type
KBTBD11	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:126 , 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	chr8:1920800-1921800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr8:1920800-1921800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr8:1920800-1921800	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr8:1920800-1922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:1920800-1922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr8:1921000-1921800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:1921000-1921800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:1921000-1921800	Flanking Bivalent TSS/Enh	NH-A	brain
18	chr8:1921000-1921800	Bivalent/Poised TSS	NHDF-Ad	bronchial
19	chr8:1921000-1922000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:1921000-1922600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:1921000-1922800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:1921000-1922800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
23	chr8:1921000-1923000	Active TSS	Brain Substantia Nigra	brain
24	chr8:1921000-1923200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:1921000-1923200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
26	chr8:1921000-1923200	Active TSS	Aorta	Aorta
27	chr8:1921000-1923200	Active TSS	Brain Angular Gyrus	brain
28	chr8:1921000-1923200	Active TSS	Brain Anterior Caudate	brain
29	chr8:1921000-1923200	Active TSS	Brain Cingulate Gyrus	brain
30	chr8:1921000-1923200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr8:1921000-1923200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:1921000-1923200	Active TSS	Ovary	ovary
33	chr8:1921000-1923200	Active TSS	Psoas Muscle	Psoas
34	chr8:1921000-1923200	Active TSS	Right Ventricle	heart
35	chr8:1921000-1923400	Active TSS	Pancreas	Pancrea
36	chr8:1921000-1923400	Active TSS	Right Atrium	heart
37	chr8:1921000-1923600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:1921200-1921800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:1921200-1921800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:1921200-1921800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:1921200-1921800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:1921200-1921800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:1921200-1921800	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr8:1921200-1921800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:1921200-1921800	Active TSS	Fetal Kidney	kidney
46	chr8:1921200-1921800	Flanking Bivalent TSS/Enh	HMEC	breast
47	chr8:1921200-1921800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
48	chr8:1921200-1921800	Bivalent/Poised TSS	K562	blood
49	chr8:1921200-1922200	Active TSS	Hela-S3	cervix
50	chr8:1921200-1922600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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