Variant report

Variant	rs570720454
Chromosome Location	chr18:9333915-9333916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr18:9333875-9335126	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr18:9333856-9334044	MCF-7	breast:	n/a	n/a
3	SP4	chr18:9333862-9334279	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr18:9333871-9334034	GM12891	blood:	n/a	n/a
5	MAX	chr18:9333849-9334458	H1-hESC	embryonic stem cell:	n/a	n/a
6	RCOR1	chr18:9333430-9335542	IMR90	lung:	n/a	n/a
7	MAX	chr18:9333838-9335197	HepG2	liver:	n/a	n/a
8	SIN3A	chr18:9333849-9335644	H1-hESC	embryonic stem cell:	n/a	chr18:9335049-9335060 chr18:9334787-9334796 chr18:9335074-9335085 chr18:9335074-9335087 chr18:9335004-9335017 chr18:9334929-9334940
9	MAX	chr18:9333739-9335451	MCF-7	breast:	n/a	n/a
10	RAD21	chr18:9333847-9334141	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr18:9333840-9333990	AG10803	skin:	n/a	n/a
12	POLR2A	chr18:9333779-9335271	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr18:9333857-9334071	Fibrobl	skin:	n/a	n/a
14	MAX	chr18:9333792-9335442	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr18:9333860-9334010	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr18:9333860-9334010	K562	blood:	n/a	n/a
17	MAX	chr18:9333859-9335014	SK-N-SH	brain:	n/a	n/a
18	CREB1	chr18:9333681-9334907	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr18:9333766-9335406	H1-hESC	embryonic stem cell:	n/a	chr18:9335316-9335328
20	YY1	chr18:9333835-9334450	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr18:9333863-9335181	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr18:9333900-9334050	NHLF	lung:	n/a	n/a
23	CTCF	chr18:9333820-9333970	HCPEpiC	choroid plexus:	n/a	n/a
24	MAX	chr18:9333629-9335272	A549	lung:	n/a	n/a
25	CTCF	chr18:9333840-9333990	NHDF-neo	bronchial:	n/a	n/a
26	CTCF	chr18:9333840-9333990	GM12874	blood:	n/a	n/a
27	CTCF	chr18:9333785-9335292	A549	lung:	n/a	n/a
28	CTCF	chr18:9333880-9334030	AG09319	gingival:	n/a	n/a
29	CTCF	chr18:9333840-9333990	AG09319	gingival:	n/a	n/a
30	CTCF	chr18:9333820-9333970	BJ	skin:	n/a	n/a
31	CREB1	chr18:9333825-9334074	A549	lung:	n/a	n/a
32	CTCF	chr18:9333900-9334050	AG04449	skin:	n/a	n/a
33	NRF1	chr18:9333886-9335659	SK-N-SH	brain:	n/a	chr18:9335081-9335095
34	PML	chr18:9333885-9334556	GM12878	blood:	n/a	n/a
35	ZNF263	chr18:9333559-9334463	HEK293-T-REx	kidney:	n/a	n/a
36	YY1	chr18:9333756-9334428	H1-hESC	embryonic stem cell:	n/a	n/a
37	SETDB1	chr18:9333585-9334490	K562	blood:	n/a	n/a
38	CTCF	chr18:9333880-9334030	HUVEC	blood vessel:	n/a	n/a
39	MAZ	chr18:9333739-9335781	IMR90	lung:	n/a	n/a
40	HA-E2F1	chr18:9333699-9335435	MCF-7	breast:	n/a	chr18:9334813-9334822
41	YY1	chr18:9333664-9334556	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr18:9333794-9335280	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr18:9333853-9334043	A549	lung:	n/a	n/a
44	CTCF	chr18:9333820-9333970	SK-N-SH_RA	brain:	n/a	n/a
45	TBP	chr18:9333908-9335232	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr18:9333691-9334888	H1-hESC	embryonic stem cell:	n/a	n/a
47	CCNT2	chr18:9333900-9333980	K562	blood:	n/a	n/a
48	POLR2A	chr18:9333795-9334549	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr18:9333726-9335045	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr18:9333880-9334030	Caco-2	colon:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
TWSG1	TF binding region
ENSG00000101745	Chromatin interaction
ENSG00000206418	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000273335	Chromatin interaction
ENSG00000168502	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9324600-9334000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:9333400-9334000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:9333400-9334200	ZNF genes & repeats	Fetal Thymus	thymus
4	chr18:9333400-9334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:9333400-9334400	Flanking Active TSS	Placenta	Placenta
6	chr18:9333400-9336400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:9333600-9334000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:9333600-9334000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:9333600-9334000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:9333600-9334000	Enhancers	Lung	lung
11	chr18:9333600-9334000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr18:9333600-9334000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr18:9333600-9334200	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr18:9333600-9334200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr18:9333600-9334400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr18:9333600-9334400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr18:9333600-9334400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:9333600-9334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:9333600-9334400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr18:9333600-9335400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:9333600-9335400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:9333600-9335400	Active TSS	Duodenum Mucosa	Duodenum
23	chr18:9333600-9335400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr18:9333600-9335400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr18:9333600-9335400	Active TSS	Rectal Smooth Muscle	rectum
26	chr18:9333600-9335600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:9333600-9335600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:9333600-9335800	Active TSS	Esophagus	oesophagus
29	chr18:9333600-9336000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr18:9333600-9336000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr18:9333600-9336000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:9333600-9336000	Active TSS	A549	lung
33	chr18:9333600-9336000	Active TSS	Osteobl	bone
34	chr18:9333600-9336200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr18:9333600-9336200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:9333600-9336200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:9333600-9336200	Active TSS	NHDF-Ad	bronchial
38	chr18:9333600-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:9333600-9336400	Active TSS	NHLF	lung
40	chr18:9333800-9334000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:9333800-9334000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr18:9333800-9334000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:9333800-9334000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:9333800-9334000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr18:9333800-9334000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr18:9333800-9334000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:9333800-9334000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr18:9333800-9334000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr18:9333800-9334000	Flanking Active TSS	Fetal Brain Male	brain
50	chr18:9333800-9334000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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