Variant report

Variant	rs528264730
Chromosome Location	chr18:9333795-9333796
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	RCOR1	chr18:9333430-9335542	IMR90	lung:	n/a	n/a
2	MAX	chr18:9333739-9335451	MCF-7	breast:	n/a	n/a
3	POLR2A	chr18:9333779-9335271	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr18:9333792-9335442	ECC-1	luminal epithelium:	n/a	n/a
5	CREB1	chr18:9333681-9334907	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr18:9333766-9335406	H1-hESC	embryonic stem cell:	n/a	chr18:9335316-9335328
7	MAX	chr18:9333629-9335272	A549	lung:	n/a	n/a
8	CTCF	chr18:9333785-9335292	A549	lung:	n/a	n/a
9	ZNF263	chr18:9333559-9334463	HEK293-T-REx	kidney:	n/a	n/a
10	YY1	chr18:9333756-9334428	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr18:9333760-9333910	RPTEC	kidney:	n/a	n/a
12	SETDB1	chr18:9333585-9334490	K562	blood:	n/a	n/a
13	MAZ	chr18:9333739-9335781	IMR90	lung:	n/a	n/a
14	HA-E2F1	chr18:9333699-9335435	MCF-7	breast:	n/a	chr18:9334813-9334822
15	YY1	chr18:9333664-9334556	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr18:9333794-9335280	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr18:9333691-9334888	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr18:9333795-9334549	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr18:9333726-9335045	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr18:9333712-9335214	HepG2	liver:	n/a	chr18:9334929-9334940 chr18:9335007-9335018 chr18:9335009-9335018 chr18:9334810-9334824 chr18:9335003-9335017
21	POLR2A	chr18:9333677-9335198	MCF-7	breast:	n/a	n/a
22	CHD1	chr18:9333764-9334297	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr18:9333658-9335948	IMR90	lung:	n/a	chr18:9334809-9334819
24	REST	chr18:9333792-9335377	H1-neurons	neurons:	n/a	chr18:9335074-9335087
25	MXI1	chr18:9333668-9335795	IMR90	lung:	n/a	n/a
26	CTCF	chr18:9333677-9335513	SK-N-SH	brain:	n/a	n/a
27	E2F6	chr18:9333778-9334888	H1-hESC	embryonic stem cell:	n/a	chr18:9334813-9334822
28	E2F6	chr18:9333545-9334775	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr18:9333720-9333870	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
2	chr18:8704001..8705732-chr18:9332474..9334627,2	K562	blood:
3	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
4	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
5	chr18:8608384..8610361-chr18:9333343..9335226,2	K562	blood:

Variant related genes	Relation type
TWSG1	TF binding region
ENSG00000168502	Chromatin interaction
ENSG00000206418	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000273335	Chromatin interaction
ENSG00000017797	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv458023	chr18:9240413-9357786	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv576447	chr18:9240413-9357786	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
7	nsv909365	chr18:9299538-9400422	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	esv3374659	chr18:9333577-9336325	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9320200-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:9324600-9334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:9333400-9333800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:9333400-9333800	Enhancers	Aorta	Aorta
5	chr18:9333400-9333800	Enhancers	Spleen	Spleen
6	chr18:9333400-9334000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr18:9333400-9334200	ZNF genes & repeats	Fetal Thymus	thymus
8	chr18:9333400-9334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:9333400-9334400	Flanking Active TSS	Placenta	Placenta
10	chr18:9333400-9336400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr18:9333600-9333800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:9333600-9333800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:9333600-9333800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:9333600-9333800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr18:9333600-9333800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
16	chr18:9333600-9333800	Enhancers	Primary B cells from cord blood	blood
17	chr18:9333600-9333800	Enhancers	Primary B cells from peripheral blood	blood
18	chr18:9333600-9333800	Enhancers	Primary hematopoietic stem cells	blood
19	chr18:9333600-9333800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr18:9333600-9333800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr18:9333600-9333800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr18:9333600-9333800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:9333600-9333800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr18:9333600-9333800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr18:9333600-9333800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:9333600-9333800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr18:9333600-9333800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:9333600-9333800	Enhancers	Adipose Nuclei	Adipose
29	chr18:9333600-9333800	Enhancers	Liver	Liver
30	chr18:9333600-9333800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr18:9333600-9333800	Active TSS	Colonic Mucosa	Colon
32	chr18:9333600-9333800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr18:9333600-9333800	Enhancers	Fetal Brain Male	brain
34	chr18:9333600-9333800	Enhancers	Fetal Heart	heart
35	chr18:9333600-9333800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr18:9333600-9333800	Enhancers	Fetal Stomach	stomach
37	chr18:9333600-9333800	Enhancers	Gastric	stomach
38	chr18:9333600-9333800	Enhancers	Pancreas	Pancrea
39	chr18:9333600-9333800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr18:9333600-9333800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr18:9333600-9333800	Enhancers	Stomach Mucosa	stomach
42	chr18:9333600-9333800	Enhancers	GM12878-XiMat	blood
43	chr18:9333600-9333800	Enhancers	HMEC	breast
44	chr18:9333600-9333800	Enhancers	HUVEC	blood vessel
45	chr18:9333600-9333800	Enhancers	NH-A	brain
46	chr18:9333600-9334000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:9333600-9334000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9333600-9334000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr18:9333600-9334000	Enhancers	Lung	lung
50	chr18:9333600-9334000	Enhancers	Sigmoid Colon	Sigmoid Colon

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