Variant report

Variant	nsv428675
Chromosome Location	chr18:28278505-28444515
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	ARID3A	chr18:28285897-28286263	K562	blood:	n/a	n/a
2	ARID3A	chr18:28391770-28392041	K562	blood:	n/a	n/a
3	ARID3A	chr18:28286519-28286532	K562	blood:	n/a	n/a
4	ARID3A	chr18:28282539-28282584	K562	blood:	n/a	n/a
5	ATF1	chr18:28285940-28286285	K562	blood:	n/a	n/a
6	ATF1	chr18:28391603-28392157	K562	blood:	n/a	n/a
7	ATF1	chr18:28341509-28341738	K562	blood:	n/a	n/a
8	ATF3	chr18:28435788-28436061	K562	blood:	n/a	n/a
9	BACH1	chr18:28344079-28344451	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr18:28292451-28292688	GM12878	blood:	n/a	n/a
11	BHLHE40	chr18:28292205-28292773	GM12878	blood:	n/a	n/a
12	BHLHE40	chr18:28300717-28300728	K562	blood:	n/a	n/a
13	BHLHE40	chr18:28285913-28286243	K562	blood:	n/a	n/a
14	CBX3	chr18:28352246-28352473	K562	blood:	n/a	n/a
15	CBX3	chr18:28302001-28302214	K562	blood:	n/a	n/a
16	CBX3	chr18:28422410-28422601	K562	blood:	n/a	n/a
17	CBX3	chr18:28352220-28352534	K562	blood:	n/a	n/a
18	CCNT2	chr18:28437783-28437836	K562	blood:	n/a	n/a
19	CCNT2	chr18:28368026-28368170	K562	blood:	n/a	n/a
20	CCNT2	chr18:28439322-28439464	K562	blood:	n/a	n/a
21	CEBPB	chr18:28345243-28345590	K562	blood:	n/a	chr18:28345427-28345440 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345428-28345439 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345427-28345438
22	CEBPB	chr18:28345245-28345608	IMR90	lung:	n/a	chr18:28345427-28345440 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345428-28345439 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345427-28345438
23	CEBPB	chr18:28444399-28444719	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:28343817-28344326	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr18:28336938-28337187	A549	lung:	n/a	chr18:28337091-28337102
26	CEBPB	chr18:28336951-28337230	K562	blood:	n/a	chr18:28337091-28337102
27	CEBPB	chr18:28345241-28345579	H1-hESC	embryonic stem cell:	n/a	chr18:28345427-28345440 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345428-28345439 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345427-28345438
28	CEBPB	chr18:28382173-28382397	HepG2	liver:	n/a	chr18:28382299-28382312 chr18:28382299-28382310
29	CEBPB	chr18:28394099-28394248	HepG2	liver:	n/a	chr18:28394185-28394196
30	CEBPB	chr18:28345247-28345607	HepG2	liver:	n/a	chr18:28345427-28345440 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345428-28345439 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345427-28345438
31	CEBPB	chr18:28444453-28444699	K562	blood:	n/a	n/a
32	CEBPB	chr18:28336930-28337254	IMR90	lung:	n/a	chr18:28337091-28337102
33	CEBPB	chr18:28435709-28436117	K562	blood:	n/a	chr18:28435917-28435928
34	CEBPB	chr18:28336944-28337157	H1-hESC	embryonic stem cell:	n/a	chr18:28337091-28337102
35	CEBPB	chr18:28435752-28436099	IMR90	lung:	n/a	chr18:28435917-28435928
36	CEBPB	chr18:28435786-28436086	H1-hESC	embryonic stem cell:	n/a	chr18:28435917-28435928
37	CEBPB	chr18:28435747-28436078	A549	lung:	n/a	chr18:28435917-28435928
38	CEBPB	chr18:28435727-28436077	K562	blood:	n/a	chr18:28435917-28435928
39	CEBPB	chr18:28345250-28345600	A549	lung:	n/a	chr18:28345427-28345440 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345428-28345439 chr18:28345429-28345438 chr18:28345427-28345440 chr18:28345427-28345438
40	CEBPB	chr18:28435744-28436085	HepG2	liver:	n/a	chr18:28435917-28435928
41	CEBPB	chr18:28435837-28435993	K562	blood:	n/a	chr18:28435917-28435928
42	CEBPB	chr18:28435786-28435994	MCF-7	breast:	n/a	chr18:28435917-28435928
43	CEBPB	chr18:28285980-28286298	K562	blood:	n/a	n/a
44	CEBPB	chr18:28286046-28286246	K562	blood:	n/a	n/a
45	CEBPB	chr18:28355708-28355918	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr18:28289713-28289922	K562	blood:	n/a	chr18:28289752-28289763
47	CEBPB	chr18:28336967-28337225	HepG2	liver:	n/a	chr18:28337091-28337102
48	CEBPB	chr18:28406637-28406914	HepG2	liver:	n/a	chr18:28406757-28406768 chr18:28406755-28406768 chr18:28406755-28406768 chr18:28406755-28406766 chr18:28406755-28406768
49	CHD2	chr18:28292424-28292759	GM12878	blood:	n/a	n/a
50	CTCF	chr18:28286075-28286176	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:28430775..28434572-chr18:28435990..28439258,3	K562	blood:
2	chr18:28331989..28334570-chr18:28337304..28339157,2	K562	blood:
3	chr18:28438972..28440489-chr18:28443533..28446432,2	K562	blood:
4	chr18:28340958..28342487-chr18:28344180..28346697,2	K562	blood:
5	chr18:28331989..28334570-chr18:28337304..28339157,2	K562	blood:
6	chr18:28438972..28440489-chr18:28443533..28446432,2	K562	blood:
7	chr18:28434529..28437526-chr18:28439604..28442520,2	K562	blood:
8	chr18:28430775..28434572-chr18:28435990..28439258,3	K562	blood:
9	chr18:28340958..28342487-chr18:28344180..28346697,2	K562	blood:
10	chr18:28395291..28397213-chr18:28403035..28404947,2	K562	blood:
11	chr18:28323353..28325367-chr18:28326674..28328924,2	K562	blood:
12	chr18:28287214..28289619-chr18:28298928..28300957,2	K562	blood:
13	chr18:28434529..28437526-chr18:28439604..28442520,2	K562	blood:
14	chr18:28399511..28402095-chr18:28406232..28408354,2	K562	blood:
15	chr18:28282398..28285896-chr18:28288783..28293295,4	K562	blood:
16	chr18:28287214..28289619-chr18:28298928..28300957,2	K562	blood:
17	chr18:28395291..28397213-chr18:28403035..28404947,2	K562	blood:
18	chr18:28284696..28286286-chr18:28288324..28290734,2	K562	blood:
19	chr18:28276205..28278628-chr18:28283100..28285003,2	K562	blood:
20	chr18:28323353..28325367-chr18:28326674..28328924,2	K562	blood:
21	chr18:28399511..28402095-chr18:28406232..28408354,2	K562	blood:
22	chr18:28284696..28286286-chr18:28288324..28290734,2	K562	blood:
23	chr18:28276205..28278628-chr18:28283100..28285003,2	K562	blood:
24	chr18:28275573..28278380-chr18:28282558..28284687,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSG1-3	chr18:28293241-28293406	ENSG00000266196.1
2	lnc-DSG1-3	chr18:28293847-28294252	ENSG00000266196.1

Variant related genes	Relation type
ENSG00000266196	TF binding region
ENSG00000266196	chromatin interactions

Extended variants
information (count: 2857 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2857 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575988628	chr18:28279444-28279445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544321600	chr18:28279448-28279449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543513185	chr18:28279451-28279452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34249696	chr18:28279465-28279466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145857678	chr18:28279470-28279471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148597818	chr18:28279474-28279475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534016354	chr18:28279504-28279505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142976127	chr18:28279519-28279520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146410316	chr18:28279561-28279562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573785677	chr18:28279607-28279608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539000867	chr18:28279622-28279623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557335439	chr18:28279628-28279629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575594625	chr18:28279666-28279667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543295724	chr18:28279692-28279693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199854061	chr18:28279700-28279701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554997989	chr18:28279719-28279720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140815123	chr18:28279742-28279743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144643270	chr18:28279786-28279787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116279642	chr18:28279797-28279798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527731969	chr18:28279825-28279826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532084894	chr18:28279857-28279858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543812406	chr18:28279883-28279884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562503563	chr18:28279927-28279928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146702636	chr18:28279952-28279953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201634574	chr18:28280090-28280091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559667067	chr18:28280141-28280142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548451282	chr18:28280171-28280172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533698984	chr18:28280179-28280180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545340282	chr18:28280188-28280189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189971120	chr18:28282405-28282406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182949737	chr18:28282421-28282422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs80114621	chr18:28282494-28282495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552169592	chr18:28282521-28282522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2678802	chr18:28282553-28282554	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187464482	chr18:28282637-28282638	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550499254	chr18:28282689-28282690	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191765994	chr18:28282721-28282722	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536082342	chr18:28282729-28282730	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2678801	chr18:28282744-28282745	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140853210	chr18:28282749-28282750	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539395448	chr18:28282751-28282752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141516935	chr18:28282805-28282806	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576033610	chr18:28282843-28282844	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2678800	chr18:28282867-28282868	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184053186	chr18:28282877-28282878	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555666948	chr18:28282885-28282886	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573734323	chr18:28282922-28282923	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540850378	chr18:28282942-28282943	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77629137	chr18:28282965-28282966	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560180454	chr18:28283077-28283078	Enhancers	Chromatin interactive region	1 gene(s)	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28279400-28280200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:28282600-28283400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr18:28285800-28287200	Enhancers	K562	blood
4	chr18:28287200-28288200	Weak transcription	K562	blood
5	chr18:28288200-28288400	Enhancers	K562	blood
6	chr18:28289200-28290000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr18:28292400-28293600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:28310600-28311000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:28310800-28311400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:28311000-28311400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr18:28311000-28312200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr18:28317200-28317400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:28317400-28317600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:28328200-28329000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr18:28328200-28329000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr18:28328200-28329400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr18:28329000-28342800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:28339800-28340000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr18:28340000-28343400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr18:28342000-28343400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr18:28342400-28342600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr18:28342400-28342800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:28342400-28343600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr18:28342400-28344400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr18:28342400-28345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr18:28342600-28343200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr18:28342600-28343600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr18:28342600-28343600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:28342800-28343200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:28342800-28343600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr18:28343000-28343200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr18:28343000-28344000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:28343000-28344400	Enhancers	Fetal Intestine Small	intestine
34	chr18:28343000-28345000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:28343200-28343600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr18:28343200-28344400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr18:28343200-28344400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr18:28343200-28344400	Enhancers	Fetal Lung	lung
39	chr18:28343400-28343600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr18:28343400-28343800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:28343400-28344400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr18:28343400-28344400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:28343400-28344400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:28343400-28344800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:28343600-28343800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr18:28343600-28343800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr18:28343600-28343800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr18:28343600-28343800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr18:28343600-28344000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr18:28343600-28344000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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