Variant report

Variant	rs540447698
Chromosome Location	chr18:9334005-9334006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 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	POLR2A	chr18:9333966-9335118	IMR90	lung:	n/a	n/a
3	CTCF	chr18:9333856-9334044	MCF-7	breast:	n/a	n/a
4	MAX	chr18:9333940-9335195	HepG2	liver:	n/a	n/a
5	SP4	chr18:9333862-9334279	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr18:9333871-9334034	GM12891	blood:	n/a	n/a
7	MAX	chr18:9333973-9335390	HepG2	liver:	n/a	n/a
8	MAX	chr18:9333849-9334458	H1-hESC	embryonic stem cell:	n/a	n/a
9	RCOR1	chr18:9333430-9335542	IMR90	lung:	n/a	n/a
10	POLR2A	chr18:9333986-9334522	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr18:9333838-9335197	HepG2	liver:	n/a	n/a
12	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
13	MAX	chr18:9333739-9335451	MCF-7	breast:	n/a	n/a
14	RAD21	chr18:9333847-9334141	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr18:9333779-9335271	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr18:9333857-9334071	Fibrobl	skin:	n/a	n/a
17	CTCF	chr18:9333980-9334130	HCM	heart:	n/a	n/a
18	JUND	chr18:9334004-9334463	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr18:9333792-9335442	ECC-1	luminal epithelium:	n/a	n/a
20	USF1	chr18:9333970-9334293	SK-N-SH_RA	brain:	n/a	chr18:9334159-9334168
21	CTCF	chr18:9333860-9334010	SK-N-SH_RA	brain:	n/a	n/a
22	MAX	chr18:9333961-9334569	A549	lung:	n/a	n/a
23	CTCF	chr18:9333860-9334010	K562	blood:	n/a	n/a
24	MAX	chr18:9333859-9335014	SK-N-SH	brain:	n/a	n/a
25	CREB1	chr18:9333681-9334907	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr18:9333766-9335406	H1-hESC	embryonic stem cell:	n/a	chr18:9335316-9335328
27	YY1	chr18:9333835-9334450	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr18:9333863-9335181	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr18:9333900-9334050	NHLF	lung:	n/a	n/a
30	MAX	chr18:9333629-9335272	A549	lung:	n/a	n/a
31	POLR2A	chr18:9333999-9335199	HepG2	liver:	n/a	n/a
32	E2F6	chr18:9333946-9334580	A549	lung:	n/a	n/a
33	CTCF	chr18:9333785-9335292	A549	lung:	n/a	n/a
34	CTCF	chr18:9333880-9334030	AG09319	gingival:	n/a	n/a
35	CTCF	chr18:9333940-9334090	HVMF	connective:	n/a	n/a
36	CREB1	chr18:9333825-9334074	A549	lung:	n/a	n/a
37	CTCF	chr18:9333900-9334050	AG04449	skin:	n/a	n/a
38	POLR2A	chr18:9333945-9335110	H1-neurons	neurons:	n/a	n/a
39	NRF1	chr18:9333886-9335659	SK-N-SH	brain:	n/a	chr18:9335081-9335095
40	PML	chr18:9333885-9334556	GM12878	blood:	n/a	n/a
41	ZNF263	chr18:9333559-9334463	HEK293-T-REx	kidney:	n/a	n/a
42	YY1	chr18:9333756-9334428	H1-hESC	embryonic stem cell:	n/a	n/a
43	SETDB1	chr18:9333585-9334490	K562	blood:	n/a	n/a
44	CTCF	chr18:9333880-9334030	HUVEC	blood vessel:	n/a	n/a
45	SMARCB1	chr18:9333991-9335381	Hela-S3	cervix:	n/a	n/a
46	MAZ	chr18:9333739-9335781	IMR90	lung:	n/a	n/a
47	POLR2A	chr18:9333980-9334019	HUVEC	blood vessel:	n/a	n/a
48	YY1	chr18:9333990-9334485	ECC-1	luminal epithelium:	n/a	n/a
49	HA-E2F1	chr18:9333699-9335435	MCF-7	breast:	n/a	chr18:9334813-9334822
50	YY1	chr18:9333664-9334556	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9333974-9334024	HUVEC	blood vessel:	n/a
2	chr18:9333974-9334024	RPTEC	kidney:	n/a
3	chr18:9333974-9334024	ECC-1	luminal epithelium:	n/a
4	chr18:9333974-9334024	ovcar-3	ovarian:	n/a
5	chr18:9333974-9334024	AG04450	lung:	fetal
6	chr18:9333974-9334024	AoSMC	blood vessel:	n/a
7	chr18:9333974-9334024	BE2_C	brain:	n/a
8	chr18:9333974-9334024	Hepatocyte	liver:	n/a
9	chr18:9333974-9334024	HRPEpiC	eye:	n/a
10	chr18:9333974-9334024	MCF10A-Er-Src	breast:	n/a
11	chr18:9333974-9334024	GM06990	blood:	n/a
12	chr18:9333974-9334024	ProgFib	skin:	n/a
13	chr18:9333974-9334024	SK-N-SH_RA	brain:	n/a
14	chr18:9333974-9334024	CMK	blood:	n/a
15	chr18:9333974-9334024	K562	blood:	n/a
16	chr18:9333974-9334024	AG09309	skin:	n/a
17	chr18:9333974-9334024	AG09319	gingival:	n/a
18	chr18:9333974-9334024	GM12891	blood:	n/a
19	chr18:9333974-9334024	IMR90	lung:	fetal
20	chr18:9333974-9334024	AG10803	skin:	n/a
21	chr18:9333974-9334024	NB4	blood:	n/a
22	chr18:9333974-9334024	PFSK-1	brain:	n/a
23	chr18:9333974-9334024	NH-A	brain:	n/a
24	chr18:9333974-9334024	HRE	kidney:	n/a
25	chr18:9333974-9334024	HCF	heart:	n/a
26	chr18:9333974-9334024	MCF-7	breast:	n/a
27	chr18:9333974-9334024	NHBE	bronchial:	n/a
28	chr18:9333974-9334024	HEK293	kidney:	embryo
29	chr18:9333974-9334024	PANC-1	pancreas:	n/a
30	chr18:9333974-9334024	GM12878	blood:	n/a
31	chr18:9333974-9334024	GM19239	blood:	n/a
32	chr18:9333974-9334024	BJ	skin:	n/a
33	chr18:9333974-9334024	HMEC	breast:	n/a
34	chr18:9333974-9334024	AG04449	skin:	fetal
35	chr18:9333974-9334024	HAEpiC	amniotic membrane:	n/a
36	chr18:9333974-9334024	HL-60	blood:	n/a
37	chr18:9333974-9334024	HCPEpiC	choroid plexus:	n/a
38	chr18:9333974-9334024	HNPCEpiC	eye:	n/a
39	chr18:9333974-9334024	PrEC	prostate:	n/a
40	chr18:9333974-9334024	SKMC	muscle:	n/a
41	chr18:9333974-9334024	Hela-S3	cervix:	n/a
42	chr18:9333974-9334024	HPAEpiC	pulmonary alveolar:	n/a
43	chr18:9333974-9334024	T-47D	breast:	n/a
44	chr18:9333974-9334024	HIPEpiC	eye:	n/a
45	chr18:9333974-9334024	LNCaP	prostate:	n/a
46	chr18:9333974-9334024	HCT-116	colon:	n/a
47	chr18:9333974-9334024	HepG2	liver:	n/a
48	chr18:9333974-9334024	A549	lung:	n/a
49	chr18:9333974-9334024	U87	brain:	n/a
50	chr18:9333974-9334024	SK-N-MC	brain:	n/a

(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
TWSG1	CpG island
ENSG00000101745	Chromatin interaction
ENSG00000168502	Chromatin interaction
ENSG00000273335	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000206418	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9333400-9334200	ZNF genes & repeats	Fetal Thymus	thymus
2	chr18:9333400-9334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr18:9333400-9334400	Flanking Active TSS	Placenta	Placenta
4	chr18:9333400-9336400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:9333600-9334200	Flanking Active TSS	Fetal Muscle Leg	muscle
6	chr18:9333600-9334200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
7	chr18:9333600-9334400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
8	chr18:9333600-9334400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr18:9333600-9334400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:9333600-9334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:9333600-9334400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr18:9333600-9335400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:9333600-9335400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:9333600-9335400	Active TSS	Duodenum Mucosa	Duodenum
15	chr18:9333600-9335400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr18:9333600-9335400	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr18:9333600-9335400	Active TSS	Rectal Smooth Muscle	rectum
18	chr18:9333600-9335600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:9333600-9335600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:9333600-9335800	Active TSS	Esophagus	oesophagus
21	chr18:9333600-9336000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr18:9333600-9336000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr18:9333600-9336000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:9333600-9336000	Active TSS	A549	lung
25	chr18:9333600-9336000	Active TSS	Osteobl	bone
26	chr18:9333600-9336200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:9333600-9336200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:9333600-9336200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr18:9333600-9336200	Active TSS	NHDF-Ad	bronchial
30	chr18:9333600-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:9333600-9336400	Active TSS	NHLF	lung
32	chr18:9333800-9334200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr18:9333800-9334200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr18:9333800-9334200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr18:9333800-9334200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
36	chr18:9333800-9334200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr18:9333800-9334200	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr18:9333800-9334200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr18:9333800-9334200	Flanking Active TSS	Fetal Stomach	stomach
40	chr18:9333800-9334200	Flanking Active TSS	Thymus	Thymus
41	chr18:9333800-9334200	Flanking Active TSS	GM12878-XiMat	blood
42	chr18:9333800-9334200	Flanking Active TSS	NH-A	brain
43	chr18:9333800-9334400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr18:9333800-9334400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr18:9333800-9334400	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr18:9333800-9334400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr18:9333800-9334400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr18:9333800-9334400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr18:9333800-9334400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr18:9333800-9334400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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