Variant report

Variant	rs55759113
Chromosome Location	chr18:9334654-9334655
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:355)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:9334640-9334790	GM12872	blood:	n/a	n/a
2	E2F6	chr18:9334606-9334956	K562	blood:	n/a	chr18:9334813-9334822
3	CTCF	chr18:9334472-9335376	K562	blood:	n/a	n/a
4	POLR2A	chr18:9334057-9335234	HUVEC	blood vessel:	n/a	n/a
5	RAD21	chr18:9333875-9335126	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr18:9334306-9335342	GM18526	blood:	n/a	n/a
7	POLR2A	chr18:9333966-9335118	IMR90	lung:	n/a	n/a
8	FOXP2	chr18:9334390-9334890	PFSK-1	brain:	n/a	n/a
9	MAX	chr18:9333940-9335195	HepG2	liver:	n/a	n/a
10	CTCF	chr18:9334600-9334750	AG04450	lung:	n/a	n/a
11	SP1	chr18:9334216-9334789	HepG2	liver:	n/a	chr18:9334483-9334493 chr18:9334482-9334494 chr18:9334482-9334494 chr18:9334483-9334493 chr18:9334527-9334537
12	CTCF	chr18:9334600-9334750	GM12874	blood:	n/a	n/a
13	MAX	chr18:9333973-9335390	HepG2	liver:	n/a	n/a
14	ELF1	chr18:9334359-9335373	K562	blood:	n/a	chr18:9334855-9334867
15	RAD21	chr18:9334207-9334964	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr18:9334594-9334781	Gliobla	brain:	n/a	n/a
17	HEY1	chr18:9334631-9335036	K562	blood:	n/a	chr18:9334973-9334988
18	CTCF	chr18:9334375-9335283	GM12878	blood:	n/a	n/a
19	SIN3AK20	chr18:9334226-9335356	K562	blood:	n/a	n/a
20	CTCF	chr18:9334620-9334770	HEK293	kidney:	n/a	n/a
21	MAZ	chr18:9334211-9335604	K562	blood:	n/a	n/a
22	RCOR1	chr18:9333430-9335542	IMR90	lung:	n/a	n/a
23	CTCF	chr18:9334620-9334770	HCFaa	heart:	n/a	n/a
24	MAX	chr18:9333838-9335197	HepG2	liver:	n/a	n/a
25	CTCF	chr18:9334640-9334790	AG10803	skin:	n/a	n/a
26	CTCF	chr18:9334620-9334770	BJ	skin:	n/a	n/a
27	EGR1	chr18:9334246-9334899	MCF-7	breast:	n/a	chr18:9334690-9334704 chr18:9334714-9334728
28	SRF	chr18:9334611-9334737	GM12878	blood:	n/a	n/a
29	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
30	MAX	chr18:9333739-9335451	MCF-7	breast:	n/a	n/a
31	CTCF	chr18:9334600-9334750	K562	blood:	n/a	n/a
32	CTCF	chr18:9334574-9334776	SK-N-SH_RA	brain:	n/a	n/a
33	POLR2A	chr18:9333779-9335271	H1-hESC	embryonic stem cell:	n/a	n/a
34	SMC3	chr18:9334542-9335067	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:9334542-9335206	GM12892	blood:	n/a	n/a
36	CTCF	chr18:9334566-9334775	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr18:9334353-9335002	GM12878	blood:	n/a	n/a
38	CTCF	chr18:9334620-9334770	AG09309	skin:	n/a	n/a
39	CTCF	chr18:9334620-9334770	HCPEpiC	choroid plexus:	n/a	n/a
40	PAX5	chr18:9334575-9335398	GM12892	blood:	n/a	chr18:9335082-9335091
41	CTCF	chr18:9334580-9334730	NHDF-neo	bronchial:	n/a	n/a
42	YY1	chr18:9334463-9335326	K562	blood:	n/a	chr18:9334929-9334940 chr18:9335007-9335018 chr18:9335009-9335018 chr18:9334810-9334824 chr18:9335003-9335017
43	EGR1	chr18:9334521-9334825	GM12878	blood:	n/a	chr18:9334690-9334704 chr18:9334714-9334728
44	MAZ	chr18:9334298-9335416	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr18:9334620-9334770	NHEK	skin:	n/a	n/a
46	CTCF	chr18:9334580-9334730	GM12873	blood:	n/a	n/a
47	CTCF	chr18:9334620-9334770	AG09319	gingival:	n/a	n/a
48	POLR2A	chr18:9334632-9335225	MCF10A-Er-Src	breast:	n/a	n/a
49	EGR1	chr18:9334449-9334959	ECC-1	luminal epithelium:	n/a	chr18:9334690-9334704 chr18:9334923-9334933 chr18:9334714-9334728
50	CTCF	chr18:9334620-9334770	AoAF	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9334639-9334689	AG09309	skin:	n/a
2	chr18:9334639-9334689	GM19239	blood:	n/a
3	chr18:9334639-9334689	SK-N-SH_RA	brain:	n/a
4	chr18:9334639-9334689	HNPCEpiC	eye:	n/a
5	chr18:9334639-9334689	MCF-7	breast:	n/a
6	chr18:9334639-9334689	MCF10A-Er-Src	breast:	n/a
7	chr18:9334639-9334689	HRCEpiC	kidney:	n/a
8	chr18:9334639-9334689	A549	lung:	n/a
9	chr18:9334639-9334689	SAEC	small airway:	n/a
10	chr18:9334639-9334689	PFSK-1	brain:	n/a
11	chr18:9334639-9334689	AoSMC	blood vessel:	n/a
12	chr18:9334639-9334689	Jurkat	blood:	n/a
13	chr18:9334639-9334689	SK-N-SH	brain:	n/a
14	chr18:9334639-9334689	NHDF-neo	bronchial:	n/a
15	chr18:9334639-9334689	CMK	blood:	n/a
16	chr18:9334639-9334689	NT2-D1	testis:	n/a
17	chr18:9334639-9334689	BE2_C	brain:	n/a
18	chr18:9334639-9334689	IMR90	lung:	fetal
19	chr18:9334639-9334689	GM12892	blood:	n/a
20	chr18:9334639-9334689	HCM	heart:	n/a
21	chr18:9334639-9334689	T-47D	breast:	n/a
22	chr18:9334639-9334689	AG09319	gingival:	n/a
23	chr18:9334639-9334689	U87	brain:	n/a
24	chr18:9334639-9334689	HPAEpiC	pulmonary alveolar:	n/a
25	chr18:9334639-9334689	LNCaP	prostate:	n/a
26	chr18:9334639-9334689	HRE	kidney:	n/a
27	chr18:9334639-9334689	HCF	heart:	n/a
28	chr18:9334639-9334689	SKMC	muscle:	n/a
29	chr18:9334639-9334689	HEEpiC	esophagus:	n/a
30	chr18:9334639-9334689	GM06990	blood:	n/a
31	chr18:9334639-9334689	BJ	skin:	n/a
32	chr18:9334639-9334689	HCT-116	colon:	n/a
33	chr18:9334639-9334689	Caco-2	colon:	n/a
34	chr18:9334639-9334689	HCPEpiC	choroid plexus:	n/a
35	chr18:9334639-9334689	AG04450	lung:	fetal
36	chr18:9334639-9334689	NB4	blood:	n/a
37	chr18:9334639-9334689	NHBE	bronchial:	n/a
38	chr18:9334639-9334689	GM12878	blood:	n/a
39	chr18:9334639-9334689	H1-hESC	embryonic stem cell:	embryo
40	chr18:9334639-9334689	AG10803	skin:	n/a
41	chr18:9334639-9334689	ovcar-3	ovarian:	n/a
42	chr18:9334639-9334689	HL-60	blood:	n/a
43	chr18:9334639-9334689	PANC-1	pancreas:	n/a
44	chr18:9334639-9334689	GM12891	blood:	n/a
45	chr18:9334639-9334689	HIPEpiC	eye:	n/a
46	chr18:9334639-9334689	ProgFib	skin:	n/a
47	chr18:9334639-9334689	RPTEC	kidney:	n/a
48	chr18:9334639-9334689	HAEpiC	amniotic membrane:	n/a
49	chr18:9334639-9334689	SK-N-MC	brain:	n/a
50	chr18:9334639-9334689	K562	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
2	chr18:9334537..9336244-chr18:9518482..9520647,3	K562	blood:
3	chr18:9334415..9335137-chr5:179159528..179160063,2	HCT-116	colon:
4	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
5	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
6	chr18:8608384..8610361-chr18:9333343..9335226,2	K562	blood:
7	chr18:9334524..9335342-chr3:31573805..31574542,2	Hela-S3	cervix:
8	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

No data

Variant related genes	Relation type
TWSG1	TF binding region
ENSG00000264964	TF binding region
ENSG00000264964	CpG island
TWSG1	CpG island
ENSG00000206418	Chromatin interaction
ENSG00000017797	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000273335	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000163527	Chromatin interaction
ENSG00000273352	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	chr18:9333400-9336400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr18:9333600-9335400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:9333600-9335400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr18:9333600-9335400	Active TSS	Duodenum Mucosa	Duodenum
5	chr18:9333600-9335400	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr18:9333600-9335400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr18:9333600-9335400	Active TSS	Rectal Smooth Muscle	rectum
8	chr18:9333600-9335600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:9333600-9335600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr18:9333600-9335800	Active TSS	Esophagus	oesophagus
11	chr18:9333600-9336000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr18:9333600-9336000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr18:9333600-9336000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:9333600-9336000	Active TSS	A549	lung
15	chr18:9333600-9336000	Active TSS	Osteobl	bone
16	chr18:9333600-9336200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:9333600-9336200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:9333600-9336200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr18:9333600-9336200	Active TSS	NHDF-Ad	bronchial
20	chr18:9333600-9336400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:9333600-9336400	Active TSS	NHLF	lung
22	chr18:9333800-9334800	Active TSS	Brain Germinal Matrix	brain
23	chr18:9333800-9335200	Active TSS	Primary hematopoietic stem cells	blood
24	chr18:9333800-9335200	Weak transcription	Fetal Heart	heart
25	chr18:9333800-9335400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr18:9333800-9335400	Active TSS	Primary T cells from cord blood	blood
27	chr18:9333800-9335400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr18:9333800-9335400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr18:9333800-9335400	Active TSS	Brain Anterior Caudate	brain
30	chr18:9333800-9335400	Active TSS	Brain Cingulate Gyrus	brain
31	chr18:9333800-9335400	Active TSS	Fetal Kidney	kidney
32	chr18:9333800-9335400	Active TSS	Gastric	stomach
33	chr18:9333800-9335400	Active TSS	Placenta Amnion	Placenta Amnion
34	chr18:9333800-9335400	Active TSS	Stomach Mucosa	stomach
35	chr18:9333800-9335400	Active TSS	Hela-S3	cervix
36	chr18:9333800-9335400	Active TSS	NHEK	skin
37	chr18:9333800-9335600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr18:9333800-9335600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:9333800-9335600	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr18:9333800-9335600	Active TSS	Brain Angular Gyrus	brain
41	chr18:9333800-9335600	Active TSS	Brain Hippocampus Middle	brain
42	chr18:9333800-9335600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr18:9333800-9335600	Active TSS	Brain Substantia Nigra	brain
44	chr18:9333800-9335600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr18:9333800-9335600	Active TSS	Left Ventricle	heart
46	chr18:9333800-9335800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr18:9333800-9335800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr18:9333800-9335800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr18:9333800-9335800	Active TSS	Colon Smooth Muscle	Colon
50	chr18:9333800-9335800	Active TSS	Fetal Brain Female	brain

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