Variant report

Variant	nsv1058332
Chromosome Location	chr18:30587430-30775498
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	chr18:30594089-30594406	HepG2	liver:	n/a	n/a
2	ATF1	chr18:30633037-30633171	K562	blood:	n/a	n/a
3	BHLHE40	chr18:30594111-30594397	HepG2	liver:	n/a	n/a
4	CEBPB	chr18:30748819-30749244	ECC-1	luminal epithelium:	n/a	chr18:30749010-30749021 chr18:30749008-30749021 chr18:30749005-30749022
5	CEBPB	chr18:30587672-30588043	IMR90	lung:	n/a	chr18:30587851-30587860 chr18:30587849-30587862 chr18:30587850-30587861 chr18:30587849-30587860 chr18:30587851-30587860 chr18:30587851-30587860 chr18:30587851-30587860
6	CEBPB	chr18:30712648-30712976	IMR90	lung:	n/a	chr18:30712821-30712832
7	CEBPB	chr18:30632763-30633124	ECC-1	luminal epithelium:	n/a	chr18:30632958-30632969
8	CEBPB	chr18:30632813-30633072	A549	lung:	n/a	chr18:30632958-30632969
9	CEBPB	chr18:30712660-30712966	HepG2	liver:	n/a	chr18:30712821-30712832
10	CEBPB	chr18:30587727-30588034	A549	lung:	n/a	chr18:30587851-30587860 chr18:30587849-30587862 chr18:30587850-30587861 chr18:30587849-30587860 chr18:30587851-30587860 chr18:30587851-30587860 chr18:30587851-30587860
11	CEBPB	chr18:30632797-30633117	IMR90	lung:	n/a	chr18:30632958-30632969
12	CEBPB	chr18:30631433-30631733	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr18:30631412-30631764	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr18:30631318-30631843	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr18:30632795-30633131	HepG2	liver:	n/a	chr18:30632958-30632969
16	CEBPB	chr18:30712771-30712960	H1-hESC	embryonic stem cell:	n/a	chr18:30712821-30712832
17	CEBPB	chr18:30653260-30653466	K562	blood:	n/a	chr18:30653354-30653367 chr18:30653354-30653367
18	CEBPB	chr18:30712782-30712920	K562	blood:	n/a	chr18:30712821-30712832
19	CEBPB	chr18:30587701-30588006	K562	blood:	n/a	chr18:30587851-30587860 chr18:30587849-30587862 chr18:30587850-30587861 chr18:30587849-30587860 chr18:30587851-30587860 chr18:30587851-30587860 chr18:30587851-30587860
20	CEBPB	chr18:30650433-30650538	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr18:30677417-30677616	HepG2	liver:	n/a	n/a
22	CEBPB	chr18:30748935-30749035	H1-hESC	embryonic stem cell:	n/a	chr18:30749010-30749021 chr18:30749008-30749021 chr18:30749005-30749022
23	CEBPB	chr18:30590104-30590530	ECC-1	luminal epithelium:	n/a	n/a
24	CEBPB	chr18:30690782-30691000	H1-hESC	embryonic stem cell:	n/a	chr18:30690913-30690924
25	CEBPB	chr18:30690751-30691074	HepG2	liver:	n/a	chr18:30690913-30690924
26	CEBPB	chr18:30631490-30631639	HepG2	liver:	n/a	n/a
27	CEBPB	chr18:30748839-30749214	ECC-1	luminal epithelium:	n/a	chr18:30749010-30749021 chr18:30749008-30749021 chr18:30749005-30749022
28	CEBPB	chr18:30587730-30587940	H1-hESC	embryonic stem cell:	n/a	chr18:30587851-30587860 chr18:30587849-30587862 chr18:30587850-30587861 chr18:30587849-30587860 chr18:30587851-30587860 chr18:30587851-30587860 chr18:30587851-30587860
29	CEBPB	chr18:30632755-30633216	ECC-1	luminal epithelium:	n/a	chr18:30632958-30632969
30	CEBPB	chr18:30631436-30631704	HepG2	liver:	n/a	n/a
31	CEBPB	chr18:30587696-30588031	HepG2	liver:	n/a	chr18:30587851-30587860 chr18:30587849-30587862 chr18:30587850-30587861 chr18:30587849-30587860 chr18:30587851-30587860 chr18:30587851-30587860 chr18:30587851-30587860
32	CTCF	chr18:30600940-30601090	HUVEC	blood vessel:	n/a	chr18:30601028-30601041 chr18:30601021-30601042 chr18:30601026-30601044
33	CTCF	chr18:30765000-30765150	SAEC	small airway:	n/a	n/a
34	CTCF	chr18:30600994-30601065	HepG2	liver:	n/a	chr18:30601028-30601041 chr18:30601021-30601042 chr18:30601026-30601044
35	CTCF	chr18:30601001-30601105	LNCaP	prostate:	n/a	chr18:30601028-30601041 chr18:30601021-30601042 chr18:30601026-30601044
36	CTCF	chr18:30764960-30765110	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr18:30764960-30765110	HMF	breast:	n/a	n/a
38	CTCF	chr18:30600880-30601030	HAc	cerebellar:	n/a	n/a
39	CTCF	chr18:30602420-30602570	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr18:30764940-30765090	HMEC	breast:	n/a	n/a
41	CTCF	chr18:30657840-30657887	LNCaP	prostate:	n/a	n/a
42	CTCF	chr18:30600960-30601110	HMF	breast:	n/a	chr18:30601028-30601041 chr18:30601021-30601042 chr18:30601026-30601044
43	CTCF	chr18:30590280-30590430	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr18:30636440-30636590	GM12865	blood:	n/a	n/a
45	CTCF	chr18:30600918-30601108	H1-hESC	embryonic stem cell:	n/a	chr18:30601028-30601041 chr18:30601021-30601042 chr18:30601026-30601044
46	CTCF	chr18:30764920-30765070	GM12865	blood:	n/a	n/a
47	CTCF	chr18:30602540-30602690	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr18:30774835-30774908	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr18:30752058-30752163	GM10248	blood:	n/a	n/a
50	CTCF	chr18:30602400-30602550	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:30754010..30755670-chr18:30759258..30762255,2	K562	blood:
2	chr18:30603427..30606072-chr18:30608311..30610426,2	K562	blood:
3	chr18:30603427..30606072-chr18:30608311..30610426,2	K562	blood:
4	chr18:30754010..30755670-chr18:30759258..30762255,2	K562	blood:
5	chr18:30696465..30698679-chr18:30700078..30702533,3	K562	blood:
6	chr18:30775261..30777813-chr3:142297768..142299816,2	MCF-7	breast:
7	chr18:30696465..30698679-chr18:30700078..30702533,3	K562	blood:
8	chr18:30445851..30448697-chr18:30721994..30723872,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL14-1	chr18:30736815-30736894	l_1551_chr18:30725829-30727663_testes
2	lnc-KLHL14-1	chr18:30725830-30726412	l_1551_chr18:30725829-30727663_testes
3	lnc-KLHL14-1	chr18:30727122-30727663	l_1551_chr18:30725829-30727663_testes
4	lnc-KLHL14-2	chr18:30741738-30742132	l_1552_chr18:30741737-30747726_testes
5	lnc-KLHL14-2	chr18:30747588-30747726	l_1552_chr18:30741737-30747726_testes

Variant related genes	Relation type
CCDC178	TF binding region
ENSG00000242390	chromatin interactions

Extended variants
information (count: 2454 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368853803	chr18:30589687-30589688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557756920	chr18:30589692-30589693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151210966	chr18:30589701-30589702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544877101	chr18:30589747-30589748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563074748	chr18:30589759-30589760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372303252	chr18:30589760-30589761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574976714	chr18:30589842-30589843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192274873	chr18:30589887-30589888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560622468	chr18:30589920-30589921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566516787	chr18:30589929-30589930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527715578	chr18:30589949-30589950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553285204	chr18:30589968-30589969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182670083	chr18:30589982-30589983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531511518	chr18:30590032-30590033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75604285	chr18:30590034-30590035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113946836	chr18:30590036-30590037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544735654	chr18:30590046-30590047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78671310	chr18:30590113-30590114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73415452	chr18:30590119-30590120	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78273183	chr18:30590134-30590135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563410708	chr18:30590143-30590144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7234969	chr18:30590177-30590178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187324690	chr18:30590232-30590233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539504535	chr18:30590240-30590241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34720640	chr18:30590282-30590283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191268911	chr18:30590301-30590302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542193819	chr18:30590350-30590351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8091021	chr18:30590358-30590359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560583447	chr18:30590363-30590364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34381043	chr18:30590498-30590499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193238003	chr18:30590500-30590501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143558901	chr18:30590519-30590520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373131565	chr18:30590521-30590522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114148658	chr18:30590522-30590523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554046195	chr18:30590545-30590546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185663680	chr18:30590616-30590617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35362912	chr18:30590654-30590655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377259284	chr18:30590714-30590715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545852882	chr18:30590794-30590795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188916606	chr18:30590832-30590833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531594415	chr18:30590865-30590866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543346233	chr18:30590945-30590946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561993273	chr18:30590952-30590953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146821454	chr18:30591044-30591045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149690182	chr18:30591210-30591211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548197654	chr18:30591230-30591231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181660790	chr18:30591234-30591235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185300382	chr18:30591309-30591310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533060785	chr18:30591313-30591314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11663204	chr18:30591325-30591326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD

Chromatin state (count:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30589600-30591800	Enhancers	NH-A	brain
2	chr18:30589600-30592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr18:30589600-30592200	Enhancers	HUVEC	blood vessel
4	chr18:30589800-30591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:30589800-30592000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:30589800-30592000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:30589800-30593800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:30590000-30591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:30590000-30592000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:30590000-30592000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr18:30590200-30590600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:30590200-30591200	Enhancers	Fetal Heart	heart
13	chr18:30590200-30591800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:30590400-30591800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:30590400-30592000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:30590600-30591200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr18:30590600-30591600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr18:30591200-30591600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:30591400-30592000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:30591600-30592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr18:30591800-30593600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:30592200-30593200	Weak transcription	HUVEC	blood vessel
23	chr18:30593200-30593800	Enhancers	HUVEC	blood vessel
24	chr18:30593200-30594400	Enhancers	Stomach Mucosa	stomach
25	chr18:30593600-30594000	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr18:30593600-30594200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:30593800-30594200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:30593800-30594600	Enhancers	Fetal Lung	lung
29	chr18:30593800-30594600	Enhancers	HepG2	liver
30	chr18:30593800-30594600	Flanking Active TSS	HUVEC	blood vessel
31	chr18:30594000-30594400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr18:30594200-30594400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:30594200-30594600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr18:30594200-30594600	Enhancers	Dnd41	blood
35	chr18:30594400-30594600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:30594400-30594600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr18:30594600-30594800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:30594600-30595000	Enhancers	HUVEC	blood vessel
39	chr18:30601400-30602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:30614000-30614600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr18:30614000-30616200	Enhancers	HUVEC	blood vessel
42	chr18:30614600-30615600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:30630400-30631000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:30631200-30631400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr18:30631200-30632200	Enhancers	Fetal Lung	lung
46	chr18:30631400-30631600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr18:30631600-30631800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr18:30643400-30643800	Enhancers	Spleen	Spleen
49	chr18:30670400-30670800	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr18:30677200-30677600	Enhancers	Spleen	Spleen

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