Variant report

Variant	nsv1067400
Chromosome Location	chr18:65896026-66169766
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	ATF1	chr18:66004329-66004513	K562	blood:	n/a	n/a
2	BACH1	chr18:66099176-66099280	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr18:66076249-66076372	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr18:65994092-65994109	GM12878	blood:	n/a	n/a
5	CEBPB	chr18:66136989-66137308	HepG2	liver:	n/a	chr18:66137131-66137142
6	CEBPB	chr18:65914784-65914871	HepG2	liver:	n/a	n/a
7	CEBPB	chr18:65899601-65899801	HepG2	liver:	n/a	chr18:65899704-65899715
8	CEBPB	chr18:66102200-66102375	A549	lung:	n/a	n/a
9	CEBPB	chr18:66069980-66070190	A549	lung:	n/a	chr18:66070048-66070057 chr18:66070047-66070058 chr18:66070022-66070033 chr18:66070024-66070035
10	CEBPB	chr18:66027705-66027817	A549	lung:	n/a	chr18:66027773-66027784
11	CEBPB	chr18:66160550-66160816	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr18:66128566-66128764	HepG2	liver:	n/a	n/a
13	CEBPB	chr18:65934853-65935219	IMR90	lung:	n/a	n/a
14	CEBPB	chr18:66021571-66021669	HepG2	liver:	n/a	chr18:66021647-66021660
15	CEBPB	chr18:65905243-65905426	HepG2	liver:	n/a	n/a
16	CEBPB	chr18:66027649-66027879	HepG2	liver:	n/a	chr18:66027773-66027784
17	CEBPB	chr18:66099053-66099368	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr18:65942882-65943264	Hela-S3	cervix:	n/a	chr18:65943074-65943085
19	CEBPB	chr18:66124124-66124611	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr18:66127980-66128763	IMR90	lung:	n/a	chr18:66128121-66128132 chr18:66128121-66128134 chr18:66128123-66128134 chr18:66128123-66128132
21	CEBPB	chr18:66165048-66165361	IMR90	lung:	n/a	n/a
22	CEBPB	chr18:66137021-66137304	A549	lung:	n/a	chr18:66137131-66137142
23	CEBPB	chr18:66085202-66085494	HepG2	liver:	n/a	chr18:66085353-66085364 chr18:66085327-66085338 chr18:66085325-66085342
24	CEBPB	chr18:66156980-66157275	A549	lung:	n/a	chr18:66157089-66157100
25	CEBPB	chr18:66103900-66104009	K562	blood:	n/a	n/a
26	CEBPB	chr18:66137090-66137251	H1-hESC	embryonic stem cell:	n/a	chr18:66137131-66137142
27	CEBPB	chr18:66067627-66067881	A549	lung:	n/a	n/a
28	CEBPB	chr18:65930194-65930563	IMR90	lung:	n/a	n/a
29	CEBPB	chr18:66085142-66085533	IMR90	lung:	n/a	chr18:66085353-66085364 chr18:66085327-66085338 chr18:66085325-66085342
30	CEBPB	chr18:66156925-66157265	HepG2	liver:	n/a	chr18:66157089-66157100
31	CEBPB	chr18:66137003-66137317	IMR90	lung:	n/a	chr18:66137131-66137142
32	CEBPB	chr18:66127972-66128252	HepG2	liver:	n/a	chr18:66128121-66128132 chr18:66128121-66128134 chr18:66128123-66128134 chr18:66128123-66128132
33	CEBPB	chr18:66156953-66157280	Hela-S3	cervix:	n/a	chr18:66157089-66157100
34	CEBPB	chr18:66103716-66104067	A549	lung:	n/a	n/a
35	CEBPB	chr18:66069912-66070143	HepG2	liver:	n/a	chr18:66070048-66070057 chr18:66070047-66070058 chr18:66070022-66070033 chr18:66070024-66070035
36	CEBPB	chr18:65930082-65930586	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr18:66097045-66097347	IMR90	lung:	n/a	chr18:66097175-66097188
38	CEBPB	chr18:66103732-66104109	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr18:66030062-66030261	IMR90	lung:	n/a	n/a
40	CEBPB	chr18:66103712-66104212	HepG2	liver:	n/a	n/a
41	CEBPB	chr18:66059178-66059468	IMR90	lung:	n/a	n/a
42	CEBPB	chr18:66162035-66162486	IMR90	lung:	n/a	n/a
43	CEBPB	chr18:66151637-66151663	IMR90	lung:	n/a	n/a
44	CEBPB	chr18:66156948-66157277	IMR90	lung:	n/a	chr18:66157089-66157100
45	CEBPB	chr18:65942945-65943241	HepG2	liver:	n/a	chr18:65943074-65943085
46	CEBPB	chr18:66085160-66085539	Hela-S3	cervix:	n/a	chr18:66085353-66085364 chr18:66085327-66085338 chr18:66085325-66085342
47	CEBPB	chr18:65957207-65957432	IMR90	lung:	n/a	chr18:65957314-65957325 chr18:65957314-65957325 chr18:65957307-65957318
48	CEBPB	chr18:66116001-66116926	IMR90	lung:	n/a	n/a
49	CEBPB	chr18:66106214-66106490	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr18:66156613-66157240	H1-hESC	embryonic stem cell:	n/a	chr18:66157089-66157100

No.	Distal block	Cell Line	Cell type
1	chr18:66073832..66075932-chr18:66079153..66081553,2	K562	blood:
2	chr18:66073832..66075932-chr18:66079153..66081553,2	K562	blood:
3	chr18:66105628..66106128-chr2:128568441..128568985,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMX3-2	chr18:65930736-65930840	ENSG00000264699.1
2	lnc-TMX3-2	chr18:65927519-65927611	NONHSAT059732
3	lnc-CCDC102B-4	chr18:66100194-66100251	ENSG00000265425.1
4	lnc-CCDC102B-4	chr18:66094267-66094563	ENSG00000265425.1
5	lnc-TMX3-5	chr18:66155430-66155525	l_1599_chr18:66153729-66155496_liver
6	lnc-CCDC102B-4	chr18:66103648-66103698	ENSG00000265425.1
7	lnc-CCDC102B-4	chr18:66103807-66104155	ENSG00000265425.1
8	lnc-TMX3-2	chr18:65907358-65907379	NONHSAT059730
9	lnc-TMX3-2	chr18:65927518-65927611	ENSG00000264699.1
10	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059732
11	lnc-CCDC102B-9	chr18:66153730-66154431	l_1598_chr18:66153301-66154431_liver
12	lnc-TMX3-2	chr18:65925576-65925802	ENSG00000264699.1
13	lnc-TMX3-5	chr18:66153730-66154431	l_1599_chr18:66153729-66155496_liver
14	lnc-TMX3-2	chr18:65928862-65928907	NONHSAT059732
15	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059730
16	lnc-TMX3-2	chr18:65928862-65928907	ENSG00000264699.1
17	lnc-CCDC102B-9	chr18:66158016-66158098	l_1598_chr18:66153301-66154431_liver
18	lnc-CCDC102B-9	chr18:66154538-66154720	l_1598_chr18:66153301-66154431_liver
19	lnc-TMX3-2	chr18:65928862-65928907	NONHSAT059730
20	lnc-TMX3-2	chr18:65932041-65932064	ENSG00000264699.1
21	lnc-CCDC102B-9	chr18:66153302-66153722	l_1598_chr18:66153301-66154431_liver

Variant related genes	Relation type
ENSG00000260747	TF binding region
ENSG00000264699	TF binding region
ENSG00000265425	TF binding region
AKR1B10P2	TF binding region
ENSG00000136709	chromatin interactions

Extended variants
information (count: 9910 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:9910 , 50 per page) page: 1 2 3 4 5 6 7 ... 199

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62097861	chr18:65900010-65900011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534783300	chr18:65900037-65900038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553948918	chr18:65900057-65900058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192909218	chr18:65900079-65900080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568033687	chr18:65900082-65900083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141949727	chr18:65900086-65900087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554557401	chr18:65900087-65900088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367599025	chr18:65900088-65900089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575664692	chr18:65900176-65900177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185472224	chr18:65900177-65900178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7230886	chr18:65900256-65900257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527407288	chr18:65900296-65900297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576542792	chr18:65900357-65900358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540725516	chr18:65900365-65900366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150179708	chr18:65900390-65900391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550258177	chr18:65900402-65900403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73466346	chr18:65900462-65900463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs73970403	chr18:65900527-65900528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138633812	chr18:65900532-65900533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187704306	chr18:65900554-65900555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552627776	chr18:65900555-65900556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564438951	chr18:65900594-65900595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528595787	chr18:65900621-65900622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568714942	chr18:65900647-65900648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192619615	chr18:65900657-65900658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565915857	chr18:65900658-65900659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149307393	chr18:65900674-65900675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374451711	chr18:65900712-65900713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183529781	chr18:65900715-65900716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539210062	chr18:65900740-65900741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558136167	chr18:65900795-65900796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576714626	chr18:65900796-65900797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368605375	chr18:65900816-65900817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534760053	chr18:65900817-65900818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552782314	chr18:65900834-65900835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575012985	chr18:65900858-65900859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144557882	chr18:65900896-65900897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563847509	chr18:65900902-65900903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576025865	chr18:65900910-65900911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557647231	chr18:65900937-65900938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375479805	chr18:65900938-65900939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368621784	chr18:65900957-65900958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546478867	chr18:65900958-65900959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564476473	chr18:65901032-65901033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188220221	chr18:65901036-65901037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547104955	chr18:65901051-65901052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562018277	chr18:65901052-65901053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76941157	chr18:65901062-65901063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7230941	chr18:65901092-65901093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569468995	chr18:65901124-65901125	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD

Chromatin state (count:772 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:65900000-65901000	Enhancers	Fetal Heart	heart
2	chr18:65900800-65902600	Enhancers	Osteobl	bone
3	chr18:65901200-65902000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:65909200-65910200	Enhancers	Osteobl	bone
5	chr18:65909400-65910000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr18:65909400-65910200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:65909800-65910200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:65909800-65929200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:65924800-65933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:65926000-65929000	Weak transcription	HSMM	muscle
11	chr18:65928000-65930600	Enhancers	NHEK	skin
12	chr18:65928400-65929200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:65928600-65928800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:65928600-65929000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:65928600-65929600	Enhancers	HMEC	breast
16	chr18:65928800-65929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:65929000-65929200	Enhancers	HSMM	muscle
18	chr18:65929000-65929400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:65929000-65930000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr18:65929000-65931600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:65929200-65929600	Weak transcription	HSMM	muscle
22	chr18:65929200-65930000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:65929200-65930400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:65929200-65930400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:65929400-65929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:65929600-65930200	Flanking Active TSS	HMEC	breast
27	chr18:65929600-65931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:65929600-65931000	Enhancers	Hela-S3	cervix
29	chr18:65929600-65931200	Enhancers	HSMM	muscle
30	chr18:65929600-65931200	Enhancers	NHDF-Ad	bronchial
31	chr18:65929600-65931400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:65929800-65930000	Enhancers	Osteobl	bone
33	chr18:65929800-65930200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:65929800-65931200	Enhancers	NH-A	brain
35	chr18:65929800-65931200	Enhancers	NHLF	lung
36	chr18:65929800-65931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:65930000-65930200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:65930000-65930200	Flanking Active TSS	Osteobl	bone
39	chr18:65930000-65931000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:65930000-65931200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:65930000-65931200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr18:65930000-65931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr18:65930000-65931200	Enhancers	HSMMtube	muscle
44	chr18:65930200-65930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:65930200-65930600	Active TSS	HMEC	breast
46	chr18:65930200-65930600	Enhancers	Osteobl	bone
47	chr18:65930400-65930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr18:65930600-65930800	Flanking Active TSS	HMEC	breast
49	chr18:65930600-65931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:65930600-65931000	Flanking Active TSS	NHEK	skin

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