Variant report

Variant	nsv1059136
Chromosome Location	chr18:26074309-26356563
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	chr18:26205748-26205756	K562	blood:	n/a	n/a
2	ATF1	chr18:26146105-26146128	K562	blood:	n/a	n/a
3	BACH1	chr18:26106315-26106374	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr18:26090193-26090532	GM12878	blood:	n/a	n/a
5	BATF	chr18:26090253-26090508	GM12878	blood:	n/a	n/a
6	BHLHE40	chr18:26347995-26348173	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:26092388-26092623	GM12878	blood:	n/a	n/a
8	BRCA1	chr18:26164591-26164612	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr18:26164026-26164297	HepG2	liver:	n/a	chr18:26164180-26164191
10	CEBPB	chr18:26084036-26084319	IMR90	lung:	n/a	chr18:26084168-26084179
11	CEBPB	chr18:26202323-26202415	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr18:26105973-26106296	HepG2	liver:	n/a	chr18:26106138-26106149
13	CEBPB	chr18:26169002-26169486	HepG2	liver:	n/a	chr18:26169315-26169326
14	CEBPB	chr18:26207700-26207890	HepG2	liver:	n/a	chr18:26207797-26207808
15	CEBPB	chr18:26084027-26084227	H1-hESC	embryonic stem cell:	n/a	chr18:26084168-26084179
16	CEBPB	chr18:26351853-26352161	HepG2	liver:	n/a	n/a
17	CEBPB	chr18:26347941-26348263	IMR90	lung:	n/a	chr18:26348101-26348114
18	CEBPB	chr18:26118630-26118978	HepG2	liver:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
19	CEBPB	chr18:26285162-26285444	HepG2	liver:	n/a	chr18:26285282-26285293 chr18:26285281-26285294 chr18:26285281-26285292
20	CEBPB	chr18:26118710-26118909	K562	blood:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
21	CEBPB	chr18:26324497-26324739	K562	blood:	n/a	chr18:26324603-26324614 chr18:26324602-26324615 chr18:26324602-26324613
22	CEBPB	chr18:26118693-26118944	IMR90	lung:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
23	CEBPB	chr18:26164013-26164367	Hela-S3	cervix:	n/a	chr18:26164180-26164191
24	CEBPB	chr18:26351816-26352173	IMR90	lung:	n/a	n/a
25	CEBPB	chr18:26128656-26128963	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr18:26173988-26174314	IMR90	lung:	n/a	n/a
27	CEBPB	chr18:26164029-26164374	IMR90	lung:	n/a	chr18:26164180-26164191
28	CEBPB	chr18:26118713-26118945	A549	lung:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
29	CEBPB	chr18:26074120-26074455	IMR90	lung:	n/a	n/a
30	CEBPB	chr18:26083965-26084411	Hela-S3	cervix:	n/a	chr18:26084168-26084179
31	CEBPB	chr18:26296502-26296999	HepG2	liver:	n/a	chr18:26296815-26296826
32	CEBPB	chr18:26141948-26142254	HepG2	liver:	n/a	chr18:26142074-26142085
33	CEBPB	chr18:26074097-26074596	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr18:26168862-26169491	Hela-S3	cervix:	n/a	chr18:26169315-26169326
35	CEBPB	chr18:26168872-26169500	IMR90	lung:	n/a	chr18:26169315-26169326
36	CEBPB	chr18:26296652-26297089	IMR90	lung:	n/a	chr18:26296815-26296826 chr18:26297014-26297025
37	CEBPB	chr18:26324465-26324768	HepG2	liver:	n/a	chr18:26324603-26324614 chr18:26324602-26324615 chr18:26324602-26324613
38	CEBPB	chr18:26351847-26352123	A549	lung:	n/a	n/a
39	CEBPB	chr18:26296267-26297105	Hela-S3	cervix:	n/a	chr18:26296815-26296826 chr18:26296483-26296494 chr18:26297014-26297025
40	CEBPB	chr18:26285197-26285409	H1-hESC	embryonic stem cell:	n/a	chr18:26285282-26285293 chr18:26285281-26285294 chr18:26285281-26285292
41	CEBPB	chr18:26325414-26325614	HepG2	liver:	n/a	chr18:26325550-26325561
42	CEBPB	chr18:26084027-26084327	HepG2	liver:	n/a	chr18:26084168-26084179
43	CEBPB	chr18:26296510-26296904	A549	lung:	n/a	chr18:26296815-26296826
44	CEBPB	chr18:26106030-26106238	A549	lung:	n/a	chr18:26106138-26106149
45	CEBPB	chr18:26159162-26159467	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr18:26118704-26118944	H1-hESC	embryonic stem cell:	n/a	chr18:26118795-26118806 chr18:26118793-26118804
47	CEBPB	chr18:26315601-26316015	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr18:26351899-26352085	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr18:26136108-26136308	IMR90	lung:	n/a	n/a
50	CEBPB	chr18:26159160-26159487	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:26236619..26238521-chr18:26285928..26287438,2	MCF-7	breast:
2	chr1:214432183..214432843-chr18:26269660..26270520,2	MCF-7	breast:
3	chr18:26236619..26238521-chr18:26285928..26287438,2	MCF-7	breast:
4	chr18:26305149..26308106-chr18:26312214..26313833,2	K562	blood:
5	chr18:26305149..26308106-chr18:26312214..26313833,2	K562	blood:
6	chr18:26266596..26267158-chr5:177579778..177580694,2	MCF-7	breast:
7	chr18:26166125..26168541-chr18:26170302..26173109,2	K562	blood:
8	chr18:26353910..26355547-chr18:26403043..26404666,2	K562	blood:
9	chr18:26256974..26259846-chr18:26260103..26261612,2	MCF-7	breast:
10	chr18:26256974..26259846-chr18:26260103..26261612,2	MCF-7	breast:
11	chr18:26187575..26188075-chr8:126441565..126442226,2	NB4	blood:
12	chr18:26166125..26168541-chr18:26170302..26173109,2	K562	blood:

Variant related genes	Relation type
ARIH2P1	TF binding region
ENSG00000145912	chromatin interactions

Extended variants
information (count: 5769 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5769 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181192412	chr18:26074403-26074404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151111820	chr18:26074413-26074414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571895227	chr18:26074422-26074423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142659191	chr18:26074431-26074432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186512996	chr18:26074444-26074445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557130262	chr18:26074459-26074460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575427587	chr18:26074464-26074465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78063964	chr18:26074472-26074473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145740757	chr18:26074487-26074488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573418418	chr18:26074520-26074521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540968010	chr18:26074581-26074582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565110969	chr18:26074587-26074588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532403312	chr18:26074595-26074596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550575319	chr18:26074733-26074734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562612889	chr18:26074779-26074780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530135178	chr18:26074789-26074790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548861440	chr18:26074824-26074825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376690016	chr18:26074829-26074830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567497093	chr18:26074911-26074912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528374978	chr18:26074913-26074914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546903776	chr18:26074936-26074937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539674705	chr18:26074942-26074943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182960379	chr18:26081205-26081206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575537487	chr18:26081258-26081259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140792827	chr18:26081259-26081260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557601430	chr18:26081291-26081292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9949415	chr18:26081381-26081382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543352954	chr18:26081387-26081388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190188443	chr18:26081409-26081410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113469854	chr18:26081460-26081461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528522594	chr18:26081501-26081502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150131202	chr18:26081552-26081553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138593161	chr18:26081636-26081637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532477856	chr18:26081655-26081656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551151756	chr18:26081657-26081658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75352709	chr18:26081687-26081688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530691499	chr18:26081725-26081726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73410048	chr18:26081764-26081765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182765245	chr18:26081812-26081813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534580695	chr18:26081924-26081925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561364362	chr18:26081977-26081978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141800742	chr18:26082025-26082026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369326286	chr18:26082026-26082027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538782089	chr18:26082065-26082066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529529519	chr18:26082085-26082086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557587535	chr18:26082184-26082185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575823039	chr18:26082248-26082249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564153094	chr18:26082274-26082275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146270764	chr18:26082295-26082296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531041403	chr18:26082308-26082309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:26073400-26074800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:26073400-26075000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:26081200-26082000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:26081600-26083200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:26083200-26084200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr18:26083200-26084400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:26083400-26084200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:26090200-26091800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr18:26090200-26092200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr18:26090600-26091600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:26091000-26091600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:26091000-26091600	Enhancers	HSMM	muscle
13	chr18:26091200-26091400	Enhancers	Osteobl	bone
14	chr18:26091200-26091600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr18:26091200-26091800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr18:26091200-26092000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:26091200-26092000	Enhancers	NH-A	brain
18	chr18:26091200-26092400	Enhancers	HSMMtube	muscle
19	chr18:26091200-26092400	Enhancers	NHEK	skin
20	chr18:26091200-26092800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:26091400-26091600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:26091400-26091600	Flanking Active TSS	Osteobl	bone
23	chr18:26091400-26091800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:26091400-26091800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr18:26091400-26091800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:26091400-26091800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:26091400-26091800	Enhancers	Left Ventricle	heart
28	chr18:26091400-26092000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr18:26091400-26092200	Enhancers	Dnd41	blood
30	chr18:26091400-26092400	Enhancers	Hela-S3	cervix
31	chr18:26091400-26092800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:26091400-26093000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:26091600-26092000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:26091600-26092000	Enhancers	Osteobl	bone
35	chr18:26091600-26092200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr18:26091600-26104200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:26091800-26092200	Weak transcription	Left Ventricle	heart
38	chr18:26091800-26092400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:26092000-26092200	Flanking Active TSS	Osteobl	bone
40	chr18:26092000-26092400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr18:26092000-26092400	Weak transcription	NH-A	brain
42	chr18:26092000-26092600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr18:26092000-26092600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:26092000-26092600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:26092000-26092600	Active TSS	HMEC	breast
46	chr18:26092000-26092800	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr18:26092000-26092800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr18:26092000-26093000	Active TSS	Right Atrium	heart
49	chr18:26092200-26092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr18:26092200-26092800	Enhancers	Left Ventricle	heart

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