Variant report

Variant	rs545088758
Chromosome Location	chr8:1921204-1921205
allele	C/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	CTCF	chr8:1921200-1921350	BJ	skin:	n/a	chr8:1921313-1921322
2	MAX	chr8:1921164-1922053	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
3	TCF12	chr8:1921104-1922231	ECC-1	luminal epithelium:	n/a	chr8:1921349-1921359
4	POLR2A	chr8:1921116-1922244	HL-60	blood:	n/a	n/a
5	CTCF	chr8:1921200-1921350	HPF	lung:	n/a	chr8:1921313-1921322
6	CTCF	chr8:1921200-1921350	AG09319	gingival:	n/a	chr8:1921313-1921322
7	KAP1	chr8:1920966-1921517	HEK293	kidney:	n/a	n/a
8	CTCF	chr8:1921160-1921310	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr8:1921200-1921350	HPAF	blood vessel:	n/a	chr8:1921313-1921322
10	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
11	TAF1	chr8:1921163-1922259	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr8:1921065-1922184	SK-N-MC	brain:	n/a	n/a
13	STAT3	chr8:1921012-1921268	MCF10A-Er-Src	breast:	n/a	chr8:1921226-1921237
14	CTCF	chr8:1921200-1921350	HRPEpiC	eye:	n/a	chr8:1921313-1921322
15	POLR2A	chr8:1920928-1922083	MCF10A-Er-Src	breast:	n/a	n/a
16	SIN3A	chr8:1921182-1922135	H1-hESC	embryonic stem cell:	n/a	chr8:1921926-1921937
17	MAX	chr8:1921159-1922184	A549	lung:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
18	POLR2A	chr8:1921145-1922278	HL-60	blood:	n/a	n/a
19	CTCF	chr8:1921200-1921350	HCFaa	heart:	n/a	chr8:1921313-1921322
20	POLR2A	chr8:1920932-1921658	SK-N-MC	brain:	n/a	n/a
21	CTCF	chr8:1921020-1921310	RPTEC	kidney:	n/a	chr8:1921079-1921087
22	CTCF	chr8:1921200-1921350	AG10803	skin:	n/a	chr8:1921313-1921322
23	CTCF	chr8:1921080-1921230	HRE	kidney:	n/a	n/a
24	STAT3	chr8:1921113-1921490	MCF10A-Er-Src	breast:	n/a	chr8:1921226-1921237
25	CTCF	chr8:1921200-1921350	BE2_C	brain:	n/a	chr8:1921313-1921322
26	MYC	chr8:1921132-1921984	NB4	blood:	n/a	chr8:1921658-1921667 chr8:1921694-1921703 chr8:1921935-1921944
27	POLR2A	chr8:1921170-1922135	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1921165-1921215	Hepatocyte	liver:	n/a
2	chr8:1921165-1921215	ovcar-3	ovarian:	n/a
3	chr8:1921165-1921215	AG10803	skin:	n/a
4	chr8:1921165-1921215	HepG2	liver:	n/a
5	chr8:1921165-1921215	HIPEpiC	eye:	n/a
6	chr8:1921165-1921215	SKMC	muscle:	n/a
7	chr8:1921165-1921215	GM12891	blood:	n/a
8	chr8:1921165-1921215	AG09309	skin:	n/a
9	chr8:1921165-1921215	GM19239	blood:	n/a
10	chr8:1921165-1921215	HNPCEpiC	eye:	n/a
11	chr8:1921165-1921215	AoSMC	blood vessel:	n/a
12	chr8:1921165-1921215	CMK	blood:	n/a
13	chr8:1921165-1921215	HUVEC	blood vessel:	n/a
14	chr8:1921165-1921215	HCM	heart:	n/a
15	chr8:1921165-1921215	BE2_C	brain:	n/a
16	chr8:1921165-1921215	H1-hESC	embryonic stem cell:	embryo
17	chr8:1921165-1921215	PFSK-1	brain:	n/a
18	chr8:1921165-1921215	MCF-7	breast:	n/a
19	chr8:1921165-1921215	AG04449	skin:	fetal
20	chr8:1921165-1921215	HAEpiC	amniotic membrane:	n/a
21	chr8:1921165-1921215	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:1921165-1921215	HEK293	kidney:	embryo
23	chr8:1921165-1921215	HCT-116	colon:	n/a
24	chr8:1921165-1921215	HMEC	breast:	n/a
25	chr8:1921165-1921215	K562	blood:	n/a
26	chr8:1921165-1921215	SK-N-SH_RA	brain:	n/a
27	chr8:1921165-1921215	AG09319	gingival:	n/a
28	chr8:1921165-1921215	HRE	kidney:	n/a
29	chr8:1921165-1921215	U87	brain:	n/a
30	chr8:1921165-1921215	LNCaP	prostate:	n/a
31	chr8:1921165-1921215	SK-N-SH	brain:	n/a
32	chr8:1921165-1921215	Jurkat	blood:	n/a
33	chr8:1921165-1921215	NT2-D1	testis:	n/a
34	chr8:1921165-1921215	GM12878	blood:	n/a
35	chr8:1921165-1921215	ECC-1	luminal epithelium:	n/a
36	chr8:1921165-1921215	IMR90	lung:	fetal
37	chr8:1921165-1921215	T-47D	breast:	n/a
38	chr8:1921165-1921215	MCF10A-Er-Src	breast:	n/a
39	chr8:1921165-1921215	HEEpiC	esophagus:	n/a
40	chr8:1921165-1921215	PANC-1	pancreas:	n/a
41	chr8:1921165-1921215	AG04450	lung:	fetal
42	chr8:1921165-1921215	HRPEpiC	eye:	n/a
43	chr8:1921165-1921215	ProgFib	skin:	n/a
44	chr8:1921165-1921215	NHBE	bronchial:	n/a
45	chr8:1921165-1921215	GM06990	blood:	n/a
46	chr8:1921165-1921215	Caco-2	colon:	n/a
47	chr8:1921165-1921215	HL-60	blood:	n/a
48	chr8:1921165-1921215	NB4	blood:	n/a
49	chr8:1921165-1921215	HRCEpiC	kidney:	n/a
50	chr8:1921165-1921215	Hela-S3	cervix:	n/a

Variant related genes	Relation type
KBTBD11	TF binding region
ENSG00000270988	TF binding region
ENSG00000270988	CpG island
KBTBD11	CpG island

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	chr8:1919000-1921400	Enhancers	Spleen	Spleen
2	chr8:1919600-1923000	Active TSS	Duodenum Mucosa	Duodenum
3	chr8:1919800-1923200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:1920000-1922400	Active TSS	Colonic Mucosa	Colon
5	chr8:1920600-1921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:1920600-1922800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:1920800-1921400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr8:1920800-1921400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr8:1920800-1921600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr8:1920800-1921600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr8:1920800-1921600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr8:1920800-1921600	Flanking Active TSS	Fetal Brain Female	brain
13	chr8:1920800-1921800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr8:1920800-1921800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr8:1920800-1921800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:1920800-1921800	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:1920800-1922000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:1920800-1922200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr8:1920800-1923200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:1920800-1923400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:1920800-1923400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:1921000-1921400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr8:1921000-1921400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr8:1921000-1921400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr8:1921000-1921400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr8:1921000-1921400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
28	chr8:1921000-1921400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:1921000-1921400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:1921000-1921400	Flanking Active TSS	Fetal Heart	heart
31	chr8:1921000-1921400	Flanking Active TSS	Fetal Lung	lung
32	chr8:1921000-1921400	Flanking Active TSS	Fetal Stomach	stomach
33	chr8:1921000-1921400	Enhancers	Small Intestine	intestine
34	chr8:1921000-1921400	Flanking Active TSS	A549	lung
35	chr8:1921000-1921400	Flanking Bivalent TSS/Enh	Dnd41	blood
36	chr8:1921000-1921400	Flanking Bivalent TSS/Enh	NHLF	lung
37	chr8:1921000-1921600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:1921000-1921600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:1921000-1921600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:1921000-1921600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:1921000-1921600	Flanking Active TSS	Liver	Liver
43	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
44	chr8:1921000-1921600	Flanking Active TSS	Fetal Brain Male	brain
45	chr8:1921000-1921600	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr8:1921000-1921600	Flanking Active TSS	Fetal Thymus	thymus
47	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr8:1921000-1921600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
49	chr8:1921000-1921600	Flanking Active TSS	HSMM	muscle
50	chr8:1921000-1921600	Flanking Active TSS	HSMMtube	muscle

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