Variant report

Variant	esv1800883
Chromosome Location	chr18:14867414-14886000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:14868113-14868143	LNCaP	prostate:	n/a	n/a
2	CTCF	chr18:14868920-14869070	AG09309	skin:	n/a	n/a
3	CTCF	chr18:14868960-14869110	MCF-7	breast:	n/a	n/a
4	CTCF	chr18:14868920-14869070	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr18:14868915-14869165	LNCaP	prostate:	n/a	n/a
6	CTCF	chr18:14868940-14869090	MCF-7	breast:	n/a	n/a
7	CTCF	chr18:14883265-14883392	GM20000	blood:	n/a	n/a
8	CTCF	chr18:14868940-14869090	HL-60	blood:	n/a	n/a
9	CTCF	chr18:14878481-14878545	GM20000	blood:	n/a	n/a
10	CTCF	chr18:14868940-14869090	AoAF	blood vessel:	n/a	n/a
11	CTCF	chr18:14868940-14869090	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr18:14868940-14869090	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr18:14868920-14869070	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr18:14883282-14883301	GM10248	blood:	n/a	n/a
15	CTCF	chr18:14868932-14869081	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:14868940-14869090	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr18:14868892-14869137	LNCaP	prostate:	n/a	n/a
18	CTCF	chr18:14868920-14869070	AG09319	gingival:	n/a	n/a
19	CTCF	chr18:14868680-14868830	MCF-7	breast:	n/a	n/a
20	CTCF	chr18:14868900-14869050	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr18:14870224-14870313	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:14868207-14868300	GM10248	blood:	n/a	n/a
23	CTCF	chr18:14874639-14874694	GM13976	blood:	n/a	n/a
24	CTCF	chr18:14868920-14869070	HCFaa	heart:	n/a	n/a
25	CTCF	chr18:14868940-14869090	HEK293	kidney:	n/a	n/a
26	CTCF	chr18:14868959-14869066	MCF-7	breast:	n/a	n/a
27	CTCF	chr18:14869000-14869150	HepG2	liver:	n/a	n/a
28	CTCF	chr18:14868913-14869093	Gliobla	brain:	n/a	n/a
29	CTCF	chr18:14868940-14869090	AG09319	gingival:	n/a	n/a
30	CTCF	chr18:14877615-14877652	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr18:14870824-14870909	GM13976	blood:	n/a	n/a
32	CTCF	chr18:14868920-14869070	HAc	cerebellar:	n/a	n/a
33	CTCF	chr18:14868960-14869110	HA-sp	spinal cord:	n/a	n/a
34	CTCF	chr18:14877957-14878009	GM13976	blood:	n/a	n/a
35	CTCF	chr18:14883302-14883382	GM10248	blood:	n/a	n/a
36	CTCF	chr18:14884300-14884386	Lung_OC	lung:	n/a	n/a
37	CTCF	chr18:14877631-14877716	GM10248	blood:	n/a	n/a
38	CTCF	chr18:14868973-14869042	HepG2	liver:	n/a	n/a
39	CTCF	chr18:14880224-14880304	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr18:14868900-14869050	GM12864	blood:	n/a	n/a
41	CTCF	chr18:14868960-14869110	NB4	blood:	n/a	n/a
42	CTCF	chr18:14872598-14872678	GM13976	blood:	n/a	n/a
43	CTCF	chr18:14868920-14869070	AG10803	skin:	n/a	n/a
44	CTCF	chr18:14868940-14869090	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr18:14868940-14869090	AG04450	lung:	n/a	n/a
46	CTCF	chr18:14869080-14869230	AG09319	gingival:	n/a	n/a
47	CTCF	chr18:14868973-14869040	ProgFib	skin:	n/a	n/a
48	CTCF	chr18:14868940-14869090	HPF	lung:	n/a	n/a
49	CTCF	chr18:14868940-14869090	AG10803	skin:	n/a	n/a
50	FOSL2	chr18:14867650-14867887	HepG2	liver:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD30B-1	chr18:14877830-14877930	ENSG00000265786.1
2	lnc-ANKRD30B-1	chr18:14883527-14883651	ENSG00000265786.1
3	lnc-ANKRD30B-1	chr18:14883832-14884051	ENSG00000265786.1
4	lnc-ANKRD30B-1	chr18:14877610-14877662	ENSG00000265786.1

No data

Variant related genes	Relation type
ENSG00000265786	TF binding region

Extended variants
information (count: 224 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377075392	chr18:14868625-14868626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189585425	chr18:14868627-14868628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202227440	chr18:14868653-14868654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1713899	chr18:14868656-14868657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1770759	chr18:14868669-14868670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1770760	chr18:14868673-14868674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563178195	chr18:14868675-14868676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1770761	chr18:14868705-14868706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548760729	chr18:14868718-14868719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62089027	chr18:14868775-14868776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545435365	chr18:14868787-14868788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3932312	chr18:14868800-14868801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559034145	chr18:14868829-14868830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528142636	chr18:14868846-14868847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186843712	chr18:14868848-14868849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567894591	chr18:14868860-14868861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530752156	chr18:14868881-14868882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1713900	chr18:14868883-14868884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528279037	chr18:14868906-14868907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2487203	chr18:14868972-14868973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367844267	chr18:14868973-14868974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200746722	chr18:14869006-14869007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570606366	chr18:14869015-14869016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539827047	chr18:14869035-14869036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553368853	chr18:14869071-14869072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201750363	chr18:14869074-14869075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200182023	chr18:14869142-14869143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566993127	chr18:14869144-14869145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190690751	chr18:14869190-14869191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556031051	chr18:14869191-14869192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575901067	chr18:14869198-14869199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190054253	chr18:14872618-14872619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs183150643	chr18:14872644-14872645	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs573872114	chr18:14872651-14872652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs569226919	chr18:14872658-14872659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs786054	chr18:14874641-14874642	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2487210	chr18:14874648-14874649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs568220261	chr18:14874660-14874661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs191765672	chr18:14874679-14874680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529430094	chr18:14876416-14876417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61670085	chr18:14876460-14876461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569288360	chr18:14876463-14876464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117289452	chr18:14876491-14876492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11660702	chr18:14876560-14876561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571632665	chr18:14876588-14876589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534202544	chr18:14876609-14876610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184290033	chr18:14876634-14876635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs786052	chr18:14876665-14876666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535380768	chr18:14876677-14876678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555178367	chr18:14876681-14876682	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14868600-14869200	Enhancers	Osteobl	bone
2	chr18:14876400-14877000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:14876600-14877000	Enhancers	Osteobl	bone
4	chr18:14877000-14879200	Weak transcription	Osteobl	bone
5	chr18:14877800-14878400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr18:14883000-14883600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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