Variant report

Variant	nsv833682
Chromosome Location	chr18:65859502-66012175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:330)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr18:66004329-66004513	K562	blood:	n/a	n/a
2	BHLHE40	chr18:65994092-65994109	GM12878	blood:	n/a	n/a
3	CEBPB	chr18:65887117-65887434	IMR90	lung:	n/a	n/a
4	CEBPB	chr18:65957312-65957504	HepG2	liver:	n/a	chr18:65957314-65957325 chr18:65957314-65957325
5	CEBPB	chr18:65942945-65943241	HepG2	liver:	n/a	chr18:65943074-65943085
6	CEBPB	chr18:65957207-65957432	IMR90	lung:	n/a	chr18:65957314-65957325 chr18:65957314-65957325 chr18:65957307-65957318
7	CEBPB	chr18:65942834-65943277	IMR90	lung:	n/a	chr18:65943074-65943085
8	CEBPB	chr18:65899601-65899801	HepG2	liver:	n/a	chr18:65899704-65899715
9	CEBPB	chr18:65930082-65930586	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr18:65905243-65905426	HepG2	liver:	n/a	n/a
11	CEBPB	chr18:65934853-65935219	IMR90	lung:	n/a	n/a
12	CEBPB	chr18:65914784-65914871	HepG2	liver:	n/a	n/a
13	CEBPB	chr18:65942882-65943264	Hela-S3	cervix:	n/a	chr18:65943074-65943085
14	CEBPB	chr18:65934868-65935163	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr18:65930194-65930563	IMR90	lung:	n/a	n/a
16	CTCF	chr18:65953710-65953785	Fibrobl	skin:	n/a	n/a
17	CTCF	chr18:65997920-65998070	HCM	heart:	n/a	n/a
18	CTCF	chr18:65883660-65883810	HCPEpiC	choroid plexus:	n/a	n/a
19	CTCF	chr18:65997980-65998130	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr18:65997940-65998090	AG04450	lung:	n/a	n/a
21	CTCF	chr18:65998040-65998190	HPF	lung:	n/a	n/a
22	CTCF	chr18:65998160-65998310	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr18:65939380-65939530	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr18:65979700-65979850	HFF	foreskin:	n/a	n/a
25	CTCF	chr18:65979740-65979890	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr18:65979800-65979950	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr18:65979760-65979910	HMEC	breast:	n/a	n/a
28	CTCF	chr18:65998040-65998190	AG10803	skin:	n/a	n/a
29	CTCF	chr18:65997940-65998090	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr18:65997920-65998070	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr18:65979800-65979950	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr18:65998020-65998170	HMF	breast:	n/a	n/a
33	CTCF	chr18:65900757-65900970	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr18:65964647-65964663	GM13976	blood:	n/a	n/a
35	CTCF	chr18:65979740-65979890	BJ	skin:	n/a	n/a
36	CTCF	chr18:65979720-65979870	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr18:65998000-65998150	HMF	breast:	n/a	n/a
38	CTCF	chr18:65997880-65998150	AG04450	lung:	n/a	n/a
39	CTCF	chr18:65997920-65998070	HCFaa	heart:	n/a	n/a
40	CTCF	chr18:65979760-65979910	AG10803	skin:	n/a	n/a
41	CTCF	chr18:65997940-65998090	HVMF	connective:	n/a	n/a
42	CTCF	chr18:65979720-65979870	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr18:65900863-65900878	HepG2	liver:	n/a	n/a
44	CTCF	chr18:65998080-65998230	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr18:65900720-65900870	HepG2	liver:	n/a	n/a
46	CTCF	chr18:65900851-65900934	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr18:65997960-65998110	AoAF	blood vessel:	n/a	n/a
48	E2F4	chr18:65981745-65981939	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr18:65991258-65991433	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr18:65888266-65888390	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMX3-2	chr18:65907358-65907379	NONHSAT059730
2	lnc-TMX3-2	chr18:65932041-65932064	ENSG00000264699.1
3	lnc-TMX3-2	chr18:65925576-65925802	ENSG00000264699.1
4	lnc-TMX3-2	chr18:65928862-65928907	NONHSAT059730
5	lnc-TMX3-2	chr18:65927519-65927611	NONHSAT059732
6	lnc-TMX3-2	chr18:65928862-65928907	NONHSAT059732
7	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059730
8	lnc-TMX3-2	chr18:65928862-65928907	ENSG00000264699.1
9	lnc-TMX3-2	chr18:65930736-65930840	ENSG00000264699.1
10	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059732
11	lnc-TMX3-2	chr18:65927518-65927611	ENSG00000264699.1

No data

Variant related genes	Relation type
ENSG00000260747	TF binding region
ENSG00000264699	TF binding region

Extended variants
information (count: 4214 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4214 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564469661	chr18:65862439-65862440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185240412	chr18:65862460-65862461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12457587	chr18:65862482-65862483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs562148529	chr18:65862543-65862544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529956615	chr18:65862544-65862545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574473	chr18:65862557-65862558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189791715	chr18:65862568-65862569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530795467	chr18:65862589-65862590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17792774	chr18:65862618-65862619	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs142296708	chr18:65862626-65862627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534300171	chr18:65862673-65862674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146062532	chr18:65862695-65862696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567809564	chr18:65862703-65862704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76267675	chr18:65862772-65862773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71368342	chr18:65862777-65862778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372459509	chr18:65862829-65862830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550541318	chr18:65862830-65862831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72947858	chr18:65862839-65862840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181394331	chr18:65862881-65862882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138836009	chr18:65862913-65862914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1482525	chr18:65862935-65862936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77859747	chr18:65862936-65862937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573223911	chr18:65862945-65862946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34784654	chr18:65862989-65862990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562211825	chr18:65862991-65862992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36002520	chr18:65873403-65873404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574783779	chr18:65873412-65873413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11875255	chr18:65873419-65873420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563847189	chr18:65873506-65873507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575795266	chr18:65873508-65873509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543672406	chr18:65873515-65873516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114659553	chr18:65873537-65873538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532313031	chr18:65873546-65873547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373928649	chr18:65873569-65873570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375974363	chr18:65873581-65873582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76215255	chr18:65879836-65879837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552888181	chr18:65879841-65879842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560526543	chr18:65879871-65879872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192633514	chr18:65879887-65879888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572369450	chr18:65879895-65879896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72951405	chr18:65879914-65879915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76741803	chr18:65879940-65879941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541347569	chr18:65879947-65879948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117104612	chr18:65879972-65879973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1032008	chr18:65880025-65880026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564205501	chr18:65880027-65880028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76611760	chr18:65880038-65880039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143917013	chr18:65880040-65880041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562395943	chr18:65880079-65880080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183550056	chr18:65880082-65880083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Burkitt''s lymphoma	18698080	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Testicular germ cell tumor	18059402	CNVD
Glioblastoma	21080181	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Colorectal cancer	16912164	CNVD
Intracranial aneurysm	16715129	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Gastric cancer	22539939	CNVD
Ovarian cancer	20844748	CNVD
Squamous cell cancer	20885788	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	21811587	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:65862400-65863000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:65873400-65873600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:65879800-65887400	Weak transcription	HSMM	muscle
4	chr18:65881000-65881200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:65881200-65881400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:65881200-65881400	Enhancers	Osteobl	bone
7	chr18:65881600-65882800	Weak transcription	Osteobl	bone
8	chr18:65882200-65882600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:65882800-65883600	Enhancers	Osteobl	bone
10	chr18:65882800-65883800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:65883000-65883400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:65883000-65883400	Enhancers	NH-A	brain
13	chr18:65883000-65883400	Enhancers	NHEK	skin
14	chr18:65883000-65883600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:65883000-65883800	Enhancers	NHDF-Ad	bronchial
16	chr18:65883000-65883800	Enhancers	NHLF	lung
17	chr18:65883200-65883600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr18:65883400-65884200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:65883400-65886400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:65883600-65886800	Weak transcription	Osteobl	bone
21	chr18:65883600-65888600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:65883800-65884400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:65883800-65886600	Weak transcription	NHLF	lung
24	chr18:65883800-65886800	Weak transcription	NHDF-Ad	bronchial
25	chr18:65883800-65887400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr18:65886200-65887400	Enhancers	Adipose Nuclei	Adipose
27	chr18:65886200-65888800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr18:65886400-65886600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:65886400-65887400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr18:65886400-65887400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:65886400-65887600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:65886600-65887600	Enhancers	NHLF	lung
33	chr18:65886800-65887400	Enhancers	NHDF-Ad	bronchial
34	chr18:65886800-65888800	Enhancers	Osteobl	bone
35	chr18:65886800-65889000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:65886800-65889600	Enhancers	Primary hematopoietic stem cells	blood
37	chr18:65887200-65889000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:65887400-65887600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:65887400-65887600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr18:65887400-65887600	Enhancers	HSMM	muscle
41	chr18:65887400-65888400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr18:65887400-65888400	Weak transcription	NHDF-Ad	bronchial
43	chr18:65887600-65887800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:65887600-65888400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr18:65887600-65888600	Weak transcription	NHLF	lung
46	chr18:65887800-65888000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:65888200-65888400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr18:65888200-65888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr18:65888200-65888800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr18:65888200-65889000	Enhancers	Brain Germinal Matrix	brain

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