Variant report

Variant	nsv833607
Chromosome Location	chr18:26090569-26236811
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	chr18:26146105-26146128	K562	blood:	n/a	n/a
2	ATF1	chr18:26205748-26205756	K562	blood:	n/a	n/a
3	BACH1	chr18:26106315-26106374	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr18:26092388-26092623	GM12878	blood:	n/a	n/a
5	BRCA1	chr18:26164591-26164612	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr18:26202323-26202415	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr18:26164013-26164367	Hela-S3	cervix:	n/a	chr18:26164180-26164191
8	CEBPB	chr18:26136108-26136308	IMR90	lung:	n/a	n/a
9	CEBPB	chr18:26168872-26169500	IMR90	lung:	n/a	chr18:26169315-26169326
10	CEBPB	chr18:26118630-26118978	HepG2	liver:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
11	CEBPB	chr18:26159160-26159487	ECC-1	luminal epithelium:	n/a	n/a
12	CEBPB	chr18:26164029-26164374	IMR90	lung:	n/a	chr18:26164180-26164191
13	CEBPB	chr18:26169002-26169486	HepG2	liver:	n/a	chr18:26169315-26169326
14	CEBPB	chr18:26128656-26128963	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr18:26141948-26142254	HepG2	liver:	n/a	chr18:26142074-26142085
16	CEBPB	chr18:26118713-26118945	A549	lung:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
17	CEBPB	chr18:26168862-26169491	Hela-S3	cervix:	n/a	chr18:26169315-26169326
18	CEBPB	chr18:26105973-26106296	HepG2	liver:	n/a	chr18:26106138-26106149
19	CEBPB	chr18:26118710-26118909	K562	blood:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
20	CEBPB	chr18:26173988-26174314	IMR90	lung:	n/a	n/a
21	CEBPB	chr18:26207700-26207890	HepG2	liver:	n/a	chr18:26207797-26207808
22	CEBPB	chr18:26118693-26118944	IMR90	lung:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
23	CEBPB	chr18:26106030-26106238	A549	lung:	n/a	chr18:26106138-26106149
24	CEBPB	chr18:26159162-26159467	ECC-1	luminal epithelium:	n/a	n/a
25	CEBPB	chr18:26118704-26118944	H1-hESC	embryonic stem cell:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
26	CEBPB	chr18:26164026-26164297	HepG2	liver:	n/a	chr18:26164180-26164191
27	CHD2	chr18:26094772-26094875	GM12878	blood:	n/a	n/a
28	CHD2	chr18:26094654-26094885	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr18:26094722-26094922	HepG2	liver:	n/a	n/a
30	CTCF	chr18:26218000-26218150	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr18:26143075-26143118	LNCaP	prostate:	n/a	n/a
32	CTCF	chr18:26228673-26228705	Fibrobl	skin:	n/a	n/a
33	CTCF	chr18:26217860-26218010	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr18:26214920-26215070	BE2_C	brain:	n/a	n/a
35	CTCF	chr18:26214900-26215050	BE2_C	brain:	n/a	n/a
36	CTCF	chr18:26164840-26164990	NHEK	skin:	n/a	n/a
37	CTCF	chr18:26217960-26218110	GM12869	blood:	n/a	n/a
38	CTCF	chr18:26217880-26218030	NHEK	skin:	n/a	n/a
39	CTCF	chr18:26215000-26215150	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr18:26218020-26218170	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr18:26217968-26218132	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr18:26218100-26218250	HCT-116	colon:	n/a	n/a
43	CTCF	chr18:26164820-26164970	AG04449	skin:	n/a	n/a
44	CTCF	chr18:26217988-26218124	HepG2	liver:	n/a	n/a
45	CTCF	chr18:26217910-26218207	GM12878	blood:	n/a	n/a
46	CTCF	chr18:26217904-26218125	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr18:26217880-26218030	HFF	foreskin:	n/a	n/a
48	CTCF	chr18:26218040-26218190	HRE	kidney:	n/a	n/a
49	CTCF	chr18:26217920-26218070	RPTEC	kidney:	n/a	n/a
50	CTCF	chr18:26198701-26198739	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:26166125..26168541-chr18:26170302..26173109,2	K562	blood:
2	chr18:26187575..26188075-chr8:126441565..126442226,2	NB4	blood:
3	chr18:26166125..26168541-chr18:26170302..26173109,2	K562	blood:
4	chr18:26236619..26238521-chr18:26285928..26287438,2	MCF-7	breast:

Variant related genes	Relation type
ARIH2P1	TF binding region

Extended variants
information (count: 1924 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1924 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8087745	chr18:26090613-26090614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74723849	chr18:26090615-26090616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528405506	chr18:26090616-26090617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140303678	chr18:26090632-26090633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559276193	chr18:26090697-26090698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532215164	chr18:26090704-26090705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550439065	chr18:26090722-26090723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374362844	chr18:26090755-26090756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539005300	chr18:26090761-26090762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530183559	chr18:26090779-26090780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548382430	chr18:26090790-26090791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566811398	chr18:26090847-26090848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534264861	chr18:26090857-26090858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558888465	chr18:26090870-26090871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192749641	chr18:26090873-26090874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538252232	chr18:26090883-26090884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145421425	chr18:26090893-26090894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574880905	chr18:26090895-26090896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542804640	chr18:26090971-26090972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77404017	chr18:26090984-26090985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112390713	chr18:26090991-26090992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9953932	chr18:26090998-26090999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs370208244	chr18:26091007-26091008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185117582	chr18:26091023-26091024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556759214	chr18:26091041-26091042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564883070	chr18:26091044-26091045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531980106	chr18:26091079-26091080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544195771	chr18:26091129-26091130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562402371	chr18:26091189-26091190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574885217	chr18:26091203-26091204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548368451	chr18:26091264-26091265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566751447	chr18:26091273-26091274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188388122	chr18:26091283-26091284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527962756	chr18:26091293-26091294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541911805	chr18:26091327-26091328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192477381	chr18:26091330-26091331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56908197	chr18:26091359-26091360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184842633	chr18:26091395-26091396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76973519	chr18:26091471-26091472	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs188083626	chr18:26091499-26091500	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536001200	chr18:26091501-26091502	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554784631	chr18:26091504-26091505	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34556208	chr18:26091528-26091529	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs540549264	chr18:26091535-26091536	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146490827	chr18:26091542-26091543	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs17365422	chr18:26091551-26091552	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544012338	chr18:26091564-26091565	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs367930475	chr18:26091616-26091617	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs180939730	chr18:26091638-26091639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372099656	chr18:26091670-26091671	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	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	chr18:26090200-26091800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr18:26090200-26092200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr18:26090600-26091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:26091000-26091600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:26091000-26091600	Enhancers	HSMM	muscle
6	chr18:26091200-26091400	Enhancers	Osteobl	bone
7	chr18:26091200-26091600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:26091200-26091800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:26091200-26092000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:26091200-26092000	Enhancers	NH-A	brain
11	chr18:26091200-26092400	Enhancers	HSMMtube	muscle
12	chr18:26091200-26092400	Enhancers	NHEK	skin
13	chr18:26091200-26092800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:26091400-26091600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:26091400-26091600	Flanking Active TSS	Osteobl	bone
16	chr18:26091400-26091800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr18:26091400-26091800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr18:26091400-26091800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:26091400-26091800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:26091400-26091800	Enhancers	Left Ventricle	heart
21	chr18:26091400-26092000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr18:26091400-26092200	Enhancers	Dnd41	blood
23	chr18:26091400-26092400	Enhancers	Hela-S3	cervix
24	chr18:26091400-26092800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:26091400-26093000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:26091600-26092000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr18:26091600-26092000	Enhancers	Osteobl	bone
28	chr18:26091600-26092200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:26091600-26104200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:26091800-26092200	Weak transcription	Left Ventricle	heart
31	chr18:26091800-26092400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:26092000-26092200	Flanking Active TSS	Osteobl	bone
33	chr18:26092000-26092400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:26092000-26092400	Weak transcription	NH-A	brain
35	chr18:26092000-26092600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:26092000-26092600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:26092000-26092600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:26092000-26092600	Active TSS	HMEC	breast
39	chr18:26092000-26092800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr18:26092000-26092800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:26092000-26093000	Active TSS	Right Atrium	heart
42	chr18:26092200-26092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:26092200-26092800	Enhancers	Left Ventricle	heart
44	chr18:26092200-26092800	Flanking Active TSS	Dnd41	blood
45	chr18:26092200-26092800	Active TSS	Osteobl	bone
46	chr18:26092400-26092600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:26092400-26092600	Active TSS	Right Ventricle	heart
48	chr18:26092400-26092800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:26092400-26092800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:26092400-26092800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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