Variant report

Variant	esv3346292
Chromosome Location	chr18:104452-113650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:381)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:381 , 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	ARID3A	chr18:107287-109941	HepG2	liver:	n/a	n/a
2	ATF1	chr18:105826-111809	K562	blood:	n/a	n/a
3	ATF3	chr18:106389-111960	K562	blood:	n/a	n/a
4	ATF3	chr18:107378-109855	HCT-116	colon:	n/a	n/a
5	ATF3	chr18:107200-107919	HepG2	liver:	n/a	n/a
6	ATF3	chr18:107931-109810	HepG2	liver:	n/a	n/a
7	ATF3	chr18:107364-110091	GM12878	blood:	n/a	n/a
8	ATF3	chr18:107976-109797	HCT-116	colon:	n/a	n/a
9	ATF3	chr18:107310-109748	A549	lung:	n/a	n/a
10	ATF3	chr18:107408-107953	HCT-116	colon:	n/a	n/a
11	BCL3	chr18:106509-110715	K562	blood:	n/a	n/a
12	BCL3	chr18:106400-110875	GM12878	blood:	n/a	n/a
13	BCL3	chr18:110891-111732	K562	blood:	n/a	n/a
14	BHLHE40	chr18:106305-111696	HepG2	liver:	n/a	n/a
15	BRCA1	chr18:107331-109770	HepG2	liver:	n/a	n/a
16	BRCA1	chr18:110435-111954	HepG2	liver:	n/a	n/a
17	BRCA1	chr18:106407-111809	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr18:106408-111978	GM12878	blood:	n/a	n/a
19	CBX3	chr18:107399-109833	HCT-116	colon:	n/a	n/a
20	CCNT2	chr18:106408-110658	K562	blood:	n/a	n/a
21	CCNT2	chr18:110910-111979	K562	blood:	n/a	n/a
22	CEBPB	chr18:107952-108491	HepG2	liver:	n/a	n/a
23	CEBPB	chr18:107429-107812	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:105945-111809	IMR90	lung:	n/a	n/a
25	CEBPB	chr18:108601-108959	HepG2	liver:	n/a	n/a
26	CEBPB	chr18:107948-109834	A549	lung:	n/a	n/a
27	CEBPB	chr18:105578-111808	K562	blood:	n/a	n/a
28	CEBPB	chr18:107314-109859	HCT-116	colon:	n/a	n/a
29	CEBPB	chr18:109033-109794	HepG2	liver:	n/a	n/a
30	CEBPB	chr18:105656-111808	HepG2	liver:	n/a	n/a
31	CEBPB	chr18:107116-110358	HepG2	liver:	n/a	n/a
32	CEBPB	chr18:105827-111813	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr18:107253-111632	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr18:107313-109878	HCT-116	colon:	n/a	n/a
35	CEBPB	chr18:107313-109857	A549	lung:	n/a	n/a
36	CEBPB	chr18:105840-111946	K562	blood:	n/a	n/a
37	CEBPB	chr18:105695-111684	K562	blood:	n/a	n/a
38	CEBPB	chr18:105825-111799	A549	lung:	n/a	n/a
39	CEBPD	chr18:107318-109981	HepG2	liver:	n/a	n/a
40	CEBPD	chr18:107935-109007	HepG2	liver:	n/a	n/a
41	CEBPD	chr18:109049-109806	HepG2	liver:	n/a	n/a
42	CEBPZ	chr18:110443-111773	HepG2	liver:	n/a	n/a
43	CHD1	chr18:106407-111945	GM12878	blood:	n/a	n/a
44	CHD1	chr18:112259-112289	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr18:106082-111978	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr18:107167-110137	HepG2	liver:	n/a	n/a
47	CHD2	chr18:110448-112022	HepG2	liver:	n/a	n/a
48	CHD2	chr18:106407-111978	K562	blood:	n/a	n/a
49	CHD2	chr18:106222-111980	GM12878	blood:	n/a	n/a
50	CREB1	chr18:107286-109841	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:111826-111876	Hela-S3	cervix:	n/a
2	chr18:111826-111876	MCF10A-Er-Src	breast:	n/a
3	chr18:111826-111876	LNCaP	prostate:	n/a
4	chr18:111826-111876	RPTEC	kidney:	n/a
5	chr18:111826-111876	HRCEpiC	kidney:	n/a
6	chr18:111826-111876	HEEpiC	esophagus:	n/a
7	chr18:111826-111876	HMEC	breast:	n/a
8	chr18:111826-111876	NHBE	bronchial:	n/a
9	chr18:111826-111876	BE2_C	brain:	n/a
10	chr18:111826-111876	Caco-2	colon:	n/a
11	chr18:111826-111876	HCM	heart:	n/a
12	chr18:111826-111876	Jurkat	blood:	n/a
13	chr18:111826-111876	CMK	blood:	n/a
14	chr18:111826-111876	NH-A	brain:	n/a
15	chr18:111826-111876	HRPEpiC	eye:	n/a
16	chr18:111826-111876	ProgFib	skin:	n/a
17	chr18:111826-111876	NT2-D1	testis:	n/a
18	chr18:111826-111876	AG04450	lung:	fetal
19	chr18:111826-111876	NB4	blood:	n/a
20	chr18:111826-111876	K562	blood:	n/a
21	chr18:111826-111876	SK-N-SH	brain:	n/a
22	chr18:111826-111876	U87	brain:	n/a
23	chr18:111826-111876	HRE	kidney:	n/a
24	chr18:111826-111876	NHDF-neo	bronchial:	n/a
25	chr18:111826-111876	AG09319	gingival:	n/a
26	chr18:111826-111876	SKMC	muscle:	n/a
27	chr18:111826-111876	GM06990	blood:	n/a
28	chr18:111826-111876	GM12892	blood:	n/a
29	chr18:111826-111876	HUVEC	blood vessel:	n/a
30	chr18:111826-111876	HCF	heart:	n/a
31	chr18:111826-111876	GM12891	blood:	n/a
32	chr18:111826-111876	ovcar-3	ovarian:	n/a
33	chr18:111826-111876	SK-N-SH_RA	brain:	n/a
34	chr18:111826-111876	HNPCEpiC	eye:	n/a
35	chr18:111826-111876	HCPEpiC	choroid plexus:	n/a
36	chr18:111826-111876	SK-N-MC	brain:	n/a
37	chr18:111826-111876	HPAEpiC	pulmonary alveolar:	n/a
38	chr18:111826-111876	HEK293	kidney:	embryo
39	chr18:111826-111876	SAEC	small airway:	n/a
40	chr18:111826-111876	HIPEpiC	eye:	n/a
41	chr18:111826-111876	PrEC	prostate:	n/a
42	chr18:111826-111876	PANC-1	pancreas:	n/a
43	chr18:111826-111876	HL-60	blood:	n/a
44	chr18:111826-111876	AG09309	skin:	n/a
45	chr18:111826-111876	GM19239	blood:	n/a
46	chr18:111826-111876	GM12878	blood:	n/a
47	chr18:111826-111876	BJ	skin:	n/a
48	chr18:111826-111876	H1-hESC	embryonic stem cell:	embryo
49	chr18:111826-111876	AG04449	skin:	fetal
50	chr18:111826-111876	AoSMC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:135498700..135499569-chr18:110892..111804,2	MCF-7	breast:
2	chr18:107798..109802-chr21:9825669..9828382,2	MCF-7	breast:
3	chr18:110119..112537-chr18:266561..268595,2	MCF-7	breast:
4	chr18:111421..112329-chr18:158239..158948,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8078	chr18:112266-112288	MIMAT0031005

No data

Variant related genes	Relation type
ROCK1P1	TF binding region
ROCK1P1	CpG island
ENSG00000101557	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000079134	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000263884	chromatin interactions

Extended variants
information (count: 1100 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56138072	chr18:104452-104453	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs56017932	chr18:104473-104474	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs55926554	chr18:104474-104475	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529224406	chr18:104495-104496	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs376094940	chr18:104524-104525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147691370	chr18:104537-104538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532979422	chr18:104544-104545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55756034	chr18:104547-104548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs570617350	chr18:104559-104560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572676053	chr18:104565-104566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537914076	chr18:104569-104570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550191035	chr18:104599-104600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55917916	chr18:104600-104601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs147815017	chr18:104617-104618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56216703	chr18:104620-104621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs200813467	chr18:104633-104634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558335475	chr18:104651-104652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9952474	chr18:104702-104703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55744377	chr18:104726-104727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561767257	chr18:104727-104728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149030255	chr18:104749-104750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540591705	chr18:104892-104893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559247121	chr18:104901-104902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533013390	chr18:104934-104935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551172376	chr18:104938-104939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199768400	chr18:104990-104991	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs191816428	chr18:104995-104996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531881666	chr18:105027-105028	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs183893777	chr18:105034-105035	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372082590	chr18:105051-105052	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532335833	chr18:105074-105075	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568477029	chr18:105077-105078	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs143004622	chr18:105119-105120	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs200484223	chr18:105129-105130	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs552447216	chr18:105152-105153	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs201838724	chr18:105160-105161	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200053876	chr18:105161-105162	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200829314	chr18:105163-105164	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs113622066	chr18:105218-105219	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs547783608	chr18:105233-105234	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs559576644	chr18:105236-105237	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201452944	chr18:105242-105243	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547736644	chr18:105248-105249	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs566378946	chr18:105251-105252	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540096221	chr18:105254-105255	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs558428881	chr18:105261-105262	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs576554352	chr18:105263-105264	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs112030913	chr18:105266-105267	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11660131	chr18:105284-105285	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs373350934	chr18:105302-105303	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:98800-106000	Weak transcription	K562	blood
2	chr18:105000-105200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
3	chr18:105000-112000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:105200-105400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
5	chr18:105400-105600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr18:105600-112000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:105800-108000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
8	chr18:105800-111200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:105800-112000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr18:105800-112000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr18:105800-112000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr18:106000-106200	ZNF genes & repeats	Liver	Liver
13	chr18:106000-106400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr18:106000-106400	ZNF genes & repeats	Brain Substantia Nigra	brain
15	chr18:106000-107400	ZNF genes & repeats	Gastric	stomach
16	chr18:106000-109600	ZNF genes & repeats	Fetal Heart	heart
17	chr18:106000-109600	ZNF genes & repeats	K562	blood
18	chr18:106000-111000	ZNF genes & repeats	Hela-S3	cervix
19	chr18:106000-111800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:106000-111800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:106000-111800	ZNF genes & repeats	Fetal Lung	lung
22	chr18:106000-111800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr18:106000-112000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr18:106000-112000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr18:106000-112000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr18:106000-112000	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr18:106000-112000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr18:106200-109600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr18:106400-107400	Weak transcription	Brain Substantia Nigra	brain
30	chr18:106800-109800	ZNF genes & repeats	Fetal Brain Male	brain
31	chr18:107000-109800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr18:107000-111800	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr18:107000-112000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr18:107000-112000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:107200-108000	ZNF genes & repeats	Pancreas	Pancrea
36	chr18:107200-109600	ZNF genes & repeats	Liver	Liver
37	chr18:107200-109800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr18:107200-111800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chr18:107200-111800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr18:107200-111800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
41	chr18:107400-108200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
42	chr18:107400-108800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr18:107400-108800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:107400-108800	ZNF genes & repeats	Lung	lung
45	chr18:107400-109600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:107400-109600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr18:107400-109600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr18:107400-109600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr18:107400-109600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr18:107400-109600	ZNF genes & repeats	Brain Hippocampus Middle	brain

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