Variant report

Variant	nsv909779
Chromosome Location	chr18:65924027-65953363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:65930194-65930563	IMR90	lung:	n/a	n/a
2	CEBPB	chr18:65934868-65935163	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr18:65934853-65935219	IMR90	lung:	n/a	n/a
4	CEBPB	chr18:65942882-65943264	Hela-S3	cervix:	n/a	chr18:65943074-65943085
5	CEBPB	chr18:65930082-65930586	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr18:65942945-65943241	HepG2	liver:	n/a	chr18:65943074-65943085
7	CEBPB	chr18:65942834-65943277	IMR90	lung:	n/a	chr18:65943074-65943085
8	CTCF	chr18:65939380-65939530	HA-sp	spinal cord:	n/a	n/a
9	EP300	chr18:65930116-65930708	SK-N-SH	brain:	n/a	chr18:65930360-65930369
10	EP300	chr18:65949473-65949921	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr18:65930140-65930562	Hela-S3	cervix:	n/a	chr18:65930360-65930369
12	EP300	chr18:65949258-65950061	SK-N-SH	brain:	n/a	n/a
13	EP300	chr18:65949373-65949984	SK-N-SH	brain:	n/a	n/a
14	EP300	chr18:65949411-65949862	SK-N-SH_RA	brain:	n/a	n/a
15	FOS	chr18:65929808-65931085	MCF10A-Er-Src	breast:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930359-65930370 chr18:65930360-65930370 chr18:65930361-65930370
16	FOS	chr18:65934828-65935241	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr18:65942910-65943260	MCF10A-Er-Src	breast:	n/a	chr18:65943081-65943092
18	FOS	chr18:65930238-65930573	Hela-S3	cervix:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930359-65930370 chr18:65930360-65930370 chr18:65930361-65930370
19	FOS	chr18:65942942-65943259	MCF10A-Er-Src	breast:	n/a	chr18:65943081-65943092
20	FOS	chr18:65934765-65935245	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr18:65942902-65943260	MCF10A-Er-Src	breast:	n/a	chr18:65943081-65943092
22	FOS	chr18:65930260-65930467	HUVEC	blood vessel:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930359-65930370 chr18:65930360-65930370 chr18:65930361-65930370
23	FOS	chr18:65942910-65943226	MCF10A-Er-Src	breast:	n/a	chr18:65943081-65943092
24	FOS	chr18:65929921-65931040	MCF10A-Er-Src	breast:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930359-65930370 chr18:65930360-65930370 chr18:65930361-65930370
25	FOS	chr18:65929921-65931012	MCF10A-Er-Src	breast:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930359-65930370 chr18:65930360-65930370 chr18:65930361-65930370
26	FOS	chr18:65934842-65935217	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr18:65934870-65935192	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr18:65929919-65931191	MCF10A-Er-Src	breast:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930359-65930370 chr18:65930360-65930370 chr18:65930361-65930370
29	FOS	chr18:65943046-65943238	HUVEC	blood vessel:	n/a	chr18:65943081-65943092
30	FOSL2	chr18:65934724-65935247	SK-N-SH	brain:	n/a	n/a
31	FOSL2	chr18:65934812-65935182	SK-N-SH	brain:	n/a	n/a
32	FOSL2	chr18:65930033-65930679	SK-N-SH	brain:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930361-65930370
33	FOSL2	chr18:65942848-65943391	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr18:65930066-65931219	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr18:65934728-65935347	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr18:65949322-65949952	SK-N-SH	brain:	n/a	chr18:65949508-65949529
37	GATA3	chr18:65949280-65949950	SK-N-SH	brain:	n/a	chr18:65949508-65949529
38	GATA3	chr18:65935661-65935766	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr18:65928659-65928748	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr18:65934768-65935378	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr18:65930049-65930713	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr18:65926370-65926526	SH-SY5Y	brain:	n/a	n/a
43	IRF3	chr18:65925405-65925415	GM12878	blood:	n/a	n/a
44	JUN	chr18:65942939-65943072	HepG2	liver:	n/a	n/a
45	JUN	chr18:65929978-65930536	Hela-S3	cervix:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930361-65930370
46	JUND	chr18:65942745-65943357	SK-N-SH	brain:	n/a	n/a
47	JUND	chr18:65934745-65935388	SK-N-SH	brain:	n/a	n/a
48	JUND	chr18:65930049-65930614	SK-N-SH	brain:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930361-65930370
49	JUND	chr18:65930043-65930559	SK-N-SH	brain:	n/a	chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930360-65930370 chr18:65930361-65930370
50	JUND	chr18:65949445-65949892	SK-N-SH	brain:	n/a	n/a

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

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

Extended variants
information (count: 961 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs964389	chr18:65924027-65924028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549297282	chr18:65924047-65924048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577440260	chr18:65924055-65924056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73970413	chr18:65924080-65924081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73970414	chr18:65924081-65924082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139129969	chr18:65924096-65924097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112541509	chr18:65924111-65924112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550326162	chr18:65924157-65924158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192845274	chr18:65924163-65924164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545747095	chr18:65924181-65924182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557588155	chr18:65924385-65924386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184188630	chr18:65924457-65924458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386804439	chr18:65924473-65924474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540476169	chr18:65924477-65924478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202097690	chr18:65924480-65924481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561936027	chr18:65924481-65924482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529589654	chr18:65924482-65924483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371744644	chr18:65924538-65924539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188862936	chr18:65924553-65924554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547278055	chr18:65924570-65924571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192124966	chr18:65924595-65924596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201855744	chr18:65924619-65924620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs900355	chr18:65924645-65924646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs184672880	chr18:65924656-65924657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149914041	chr18:65924660-65924661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200496588	chr18:65924850-65924851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546300888	chr18:65924851-65924852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527777368	chr18:65924858-65924859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8093428	chr18:65924897-65924898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568241393	chr18:65924914-65924915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552179969	chr18:65924933-65924934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371272741	chr18:65924947-65924948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535784195	chr18:65924953-65924954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80236270	chr18:65924954-65924955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569143465	chr18:65925027-65925028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539063450	chr18:65925088-65925089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74816599	chr18:65925182-65925183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572892676	chr18:65925219-65925220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77357803	chr18:65925341-65925342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144936472	chr18:65925348-65925349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573879415	chr18:65925387-65925388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112694358	chr18:65925409-65925410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190557540	chr18:65925447-65925448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80106418	chr18:65925453-65925454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148624085	chr18:65925468-65925469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547955499	chr18:65925470-65925471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34128734	chr18:65925484-65925485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527812568	chr18:65925489-65925490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144192385	chr18:65925501-65925502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561334357	chr18:65925629-65925630	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:65909800-65929200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:65924800-65933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:65926000-65929000	Weak transcription	HSMM	muscle
4	chr18:65928000-65930600	Enhancers	NHEK	skin
5	chr18:65928400-65929200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:65928600-65928800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:65928600-65929000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:65928600-65929600	Enhancers	HMEC	breast
9	chr18:65928800-65929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:65929000-65929200	Enhancers	HSMM	muscle
11	chr18:65929000-65929400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:65929000-65930000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:65929000-65931600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:65929200-65929600	Weak transcription	HSMM	muscle
15	chr18:65929200-65930000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:65929200-65930400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:65929200-65930400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:65929400-65929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:65929600-65930200	Flanking Active TSS	HMEC	breast
20	chr18:65929600-65931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:65929600-65931000	Enhancers	Hela-S3	cervix
22	chr18:65929600-65931200	Enhancers	HSMM	muscle
23	chr18:65929600-65931200	Enhancers	NHDF-Ad	bronchial
24	chr18:65929600-65931400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:65929800-65930000	Enhancers	Osteobl	bone
26	chr18:65929800-65930200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:65929800-65931200	Enhancers	NH-A	brain
28	chr18:65929800-65931200	Enhancers	NHLF	lung
29	chr18:65929800-65931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:65930000-65930200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:65930000-65930200	Flanking Active TSS	Osteobl	bone
32	chr18:65930000-65931000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:65930000-65931200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr18:65930000-65931200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr18:65930000-65931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr18:65930000-65931200	Enhancers	HSMMtube	muscle
37	chr18:65930200-65930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:65930200-65930600	Active TSS	HMEC	breast
39	chr18:65930200-65930600	Enhancers	Osteobl	bone
40	chr18:65930400-65930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:65930600-65930800	Flanking Active TSS	HMEC	breast
42	chr18:65930600-65931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:65930600-65931000	Flanking Active TSS	NHEK	skin
44	chr18:65930600-65931000	Flanking Active TSS	Osteobl	bone
45	chr18:65930800-65931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:65930800-65931600	Enhancers	HMEC	breast
47	chr18:65931000-65931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:65931000-65931400	Enhancers	Osteobl	bone
49	chr18:65931000-65931600	Enhancers	NHEK	skin
50	chr18:65931000-65934800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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