Variant report

Variant	nsv1060990
Chromosome Location	chr18:65947671-66179054
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	chr18:66076249-66076372	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr18:66099176-66099280	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr18:65994092-65994109	GM12878	blood:	n/a	n/a
5	CEBPB	chr18:66165048-66165361	IMR90	lung:	n/a	n/a
6	CEBPB	chr18:66106146-66106591	IMR90	lung:	n/a	chr18:66106186-66106197
7	CEBPB	chr18:66069912-66070143	HepG2	liver:	n/a	chr18:66070048-66070057 chr18:66070047-66070058 chr18:66070022-66070033 chr18:66070024-66070035
8	CEBPB	chr18:66027705-66027817	A549	lung:	n/a	chr18:66027773-66027784
9	CEBPB	chr18:66027649-66027879	HepG2	liver:	n/a	chr18:66027773-66027784
10	CEBPB	chr18:66103732-66104109	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr18:66067627-66067881	A549	lung:	n/a	n/a
12	CEBPB	chr18:66137021-66137304	A549	lung:	n/a	chr18:66137131-66137142
13	CEBPB	chr18:66174835-66175206	IMR90	lung:	n/a	chr18:66175122-66175133
14	CEBPB	chr18:66127980-66128763	IMR90	lung:	n/a	chr18:66128121-66128132 chr18:66128121-66128134 chr18:66128123-66128134 chr18:66128123-66128132
15	CEBPB	chr18:66085160-66085539	Hela-S3	cervix:	n/a	chr18:66085353-66085364 chr18:66085327-66085338 chr18:66085325-66085342
16	CEBPB	chr18:66156613-66157240	H1-hESC	embryonic stem cell:	n/a	chr18:66157089-66157100
17	CEBPB	chr18:66103716-66104067	A549	lung:	n/a	n/a
18	CEBPB	chr18:66156925-66157265	HepG2	liver:	n/a	chr18:66157089-66157100
19	CEBPB	chr18:66099053-66099368	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr18:66103712-66104212	HepG2	liver:	n/a	n/a
21	CEBPB	chr18:66174836-66175158	HepG2	liver:	n/a	chr18:66175122-66175133
22	CEBPB	chr18:66137090-66137251	H1-hESC	embryonic stem cell:	n/a	chr18:66137131-66137142
23	CEBPB	chr18:66151637-66151663	IMR90	lung:	n/a	n/a
24	CEBPB	chr18:66021571-66021669	HepG2	liver:	n/a	chr18:66021647-66021660
25	CEBPB	chr18:66162035-66162486	IMR90	lung:	n/a	n/a
26	CEBPB	chr18:66116001-66116926	IMR90	lung:	n/a	n/a
27	CEBPB	chr18:66085142-66085533	IMR90	lung:	n/a	chr18:66085353-66085364 chr18:66085327-66085338 chr18:66085325-66085342
28	CEBPB	chr18:66160550-66160816	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr18:66156953-66157280	Hela-S3	cervix:	n/a	chr18:66157089-66157100
30	CEBPB	chr18:66156948-66157277	IMR90	lung:	n/a	chr18:66157089-66157100
31	CEBPB	chr18:66137003-66137317	IMR90	lung:	n/a	chr18:66137131-66137142
32	CEBPB	chr18:66103900-66104009	K562	blood:	n/a	n/a
33	CEBPB	chr18:66127972-66128252	HepG2	liver:	n/a	chr18:66128121-66128132 chr18:66128121-66128134 chr18:66128123-66128134 chr18:66128123-66128132
34	CEBPB	chr18:66102200-66102375	A549	lung:	n/a	n/a
35	CEBPB	chr18:66059178-66059468	IMR90	lung:	n/a	n/a
36	CEBPB	chr18:65957207-65957432	IMR90	lung:	n/a	chr18:65957314-65957325 chr18:65957314-65957325 chr18:65957307-65957318
37	CEBPB	chr18:65957312-65957504	HepG2	liver:	n/a	chr18:65957314-65957325 chr18:65957314-65957325
38	CEBPB	chr18:66030062-66030261	IMR90	lung:	n/a	n/a
39	CEBPB	chr18:66156980-66157275	A549	lung:	n/a	chr18:66157089-66157100
40	CEBPB	chr18:66103687-66104275	IMR90	lung:	n/a	n/a
41	CEBPB	chr18:66128566-66128764	HepG2	liver:	n/a	n/a
42	CEBPB	chr18:66136989-66137308	HepG2	liver:	n/a	chr18:66137131-66137142
43	CEBPB	chr18:66162073-66162477	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr18:66124124-66124611	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr18:66097045-66097347	IMR90	lung:	n/a	chr18:66097175-66097188
46	CEBPB	chr18:66085202-66085494	HepG2	liver:	n/a	chr18:66085353-66085364 chr18:66085327-66085338 chr18:66085325-66085342
47	CEBPB	chr18:66069980-66070190	A549	lung:	n/a	chr18:66070048-66070057 chr18:66070047-66070058 chr18:66070022-66070033 chr18:66070024-66070035
48	CEBPB	chr18:66106214-66106490	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr18:66104150-66104178	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD1	chr18:66157388-66157613	H1-hESC	embryonic stem cell:	n/a	n/a

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-TMX3-5	chr18:66155430-66155525	l_1599_chr18:66153729-66155496_liver
2	lnc-CCDC102B-4	chr18:66103807-66104155	ENSG00000265425.1
3	lnc-CCDC102B-4	chr18:66103648-66103698	ENSG00000265425.1
4	lnc-CCDC102B-4	chr18:66100194-66100251	ENSG00000265425.1
5	lnc-CCDC102B-9	chr18:66153730-66154431	l_1598_chr18:66153301-66154431_liver
6	lnc-CCDC102B-9	chr18:66153302-66153722	l_1598_chr18:66153301-66154431_liver
7	lnc-CCDC102B-9	chr18:66170195-66170662	l_1598_chr18:66153301-66154431_liver
8	lnc-TMX3-5	chr18:66153730-66154431	l_1599_chr18:66153729-66155496_liver
9	lnc-CCDC102B-9	chr18:66158016-66158098	l_1598_chr18:66153301-66154431_liver
10	lnc-CCDC102B-9	chr18:66154538-66154720	l_1598_chr18:66153301-66154431_liver
11	lnc-CCDC102B-4	chr18:66094267-66094563	ENSG00000265425.1

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

Extended variants
information (count: 8676 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:8676 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8085593	chr18:65949294-65949295	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74965473	chr18:65949297-65949298	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190479104	chr18:65949315-65949316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576682295	chr18:65949325-65949326	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113086067	chr18:65949337-65949338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs565398304	chr18:65949393-65949394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs73468359	chr18:65949403-65949404	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541064838	chr18:65949442-65949443	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559449345	chr18:65949492-65949493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530119085	chr18:65949503-65949504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545840334	chr18:65949540-65949541	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs183023279	chr18:65949557-65949558	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs187694052	chr18:65949610-65949611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548348076	chr18:65949647-65949648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531361175	chr18:65949664-65949665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs550060442	chr18:65949678-65949679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs141553085	chr18:65949716-65949717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs191009711	chr18:65949733-65949734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs648837	chr18:65949737-65949738	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553784876	chr18:65949812-65949813	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs375448342	chr18:65949823-65949824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182729733	chr18:65949836-65949837	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs17078833	chr18:65949850-65949851	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536374670	chr18:65949851-65949852	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs537712765	chr18:65949905-65949906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371852842	chr18:65949953-65949954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs187655044	chr18:65949966-65949967	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548316939	chr18:65949981-65949982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs543645426	chr18:65950025-65950026	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs17078836	chr18:65950029-65950030	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192837681	chr18:65950061-65950062	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs541450034	chr18:65950070-65950071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs557091980	chr18:65951220-65951221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575564738	chr18:65951232-65951233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4337399	chr18:65951237-65951238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1272530	chr18:65951251-65951252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1244250	chr18:65951278-65951279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs577158932	chr18:65951287-65951288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564562496	chr18:65951305-65951306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577003989	chr18:65951307-65951308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189182000	chr18:65951350-65951351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs621248	chr18:65951364-65951365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34096975	chr18:65951373-65951374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77313110	chr18:65951409-65951410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112236982	chr18:65951440-65951441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs639547	chr18:65951502-65951503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376733904	chr18:65951570-65951571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12458357	chr18:65951581-65951582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181067444	chr18:65951612-65951613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547656474	chr18:65951662-65951663	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:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:65951200-65952000	Enhancers	HSMM	muscle
2	chr18:65952000-65965600	Weak transcription	HSMM	muscle
3	chr18:65955600-65956000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:65955600-65956000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:65961400-65962200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:65962200-65962800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:65962800-65967000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:65965200-65965800	Enhancers	Fetal Muscle Leg	muscle
9	chr18:65965200-65966000	Enhancers	Fetal Brain Female	brain
10	chr18:65965400-65965800	Enhancers	Brain Germinal Matrix	brain
11	chr18:65965600-65966000	Enhancers	HSMM	muscle
12	chr18:65966000-65976000	Weak transcription	HSMM	muscle
13	chr18:65967000-65967400	Enhancers	HMEC	breast
14	chr18:65967000-65967600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:65976000-65976200	ZNF genes & repeats	HSMM	muscle
16	chr18:65976200-65981800	Weak transcription	HSMM	muscle
17	chr18:65977600-65978200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:65978200-65991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr18:65981600-65982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:65981600-65982200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:65981600-65982800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr18:65981800-65982400	Enhancers	NHDF-Ad	bronchial
23	chr18:65981800-65983000	Enhancers	HSMM	muscle
24	chr18:65982000-65983800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:65982200-65983800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:65982400-65983000	Enhancers	Fetal Heart	heart
27	chr18:65982400-65983200	Weak transcription	NHDF-Ad	bronchial
28	chr18:65982800-65983400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr18:65983000-65983200	Enhancers	HMEC	breast
30	chr18:65983000-65983400	Enhancers	NHEK	skin
31	chr18:65983000-65984200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:65983000-65984400	Active TSS	HSMM	muscle
33	chr18:65983000-65986000	Weak transcription	Fetal Heart	heart
34	chr18:65983200-65983600	Enhancers	NHDF-Ad	bronchial
35	chr18:65983200-65984000	Weak transcription	HMEC	breast
36	chr18:65983400-65983800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr18:65983600-65984600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr18:65983600-65984600	Active TSS	NHDF-Ad	bronchial
39	chr18:65983600-65984600	Active TSS	NHLF	lung
40	chr18:65983800-65984000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:65983800-65984000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr18:65983800-65984000	Active TSS	HSMMtube	muscle
43	chr18:65983800-65984400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr18:65983800-65984400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:65983800-65984600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:65984000-65984200	Active TSS	Muscle Satellite Cultured Cells	--
47	chr18:65984000-65984200	Enhancers	HMEC	breast
48	chr18:65984000-65984200	Flanking Active TSS	HSMMtube	muscle
49	chr18:65984000-65984400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:65984000-65984400	Active TSS	Adipose Nuclei	Adipose

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