Variant report

Variant	nsv909571
Chromosome Location	chr18:39744969-39803821
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	chr18:39751178-39751423	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:39748155-39749256	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:39772671-39773280	HepG2	liver:	n/a	n/a
4	ATF2	chr18:39767923-39768305	GM12878	blood:	n/a	n/a
5	BACH1	chr18:39763737-39764096	H1-hESC	embryonic stem cell:	n/a	chr18:39763920-39763934
6	BATF	chr18:39767884-39768290	GM12878	blood:	n/a	n/a
7	BATF	chr18:39756655-39756883	GM12878	blood:	n/a	n/a
8	BATF	chr18:39772309-39772479	GM12878	blood:	n/a	n/a
9	BCL11A	chr18:39770644-39770908	GM12878	blood:	n/a	n/a
10	BCL11A	chr18:39767875-39768269	GM12878	blood:	n/a	n/a
11	BCL11A	chr18:39781152-39781461	GM12878	blood:	n/a	n/a
12	BCL11A	chr18:39767938-39768307	GM12878	blood:	n/a	n/a
13	BCL11A	chr18:39770691-39770876	GM12878	blood:	n/a	n/a
14	BHLHE40	chr18:39781246-39781446	GM12878	blood:	n/a	n/a
15	BHLHE40	chr18:39767925-39768326	GM12878	blood:	n/a	n/a
16	BHLHE40	chr18:39770695-39770944	GM12878	blood:	n/a	n/a
17	BHLHE40	chr18:39756693-39756906	GM12878	blood:	n/a	n/a
18	BRCA1	chr18:39802055-39802094	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr18:39765202-39765309	H1-hESC	embryonic stem cell:	n/a	chr18:39765263-39765272 chr18:39765261-39765274 chr18:39765263-39765274 chr18:39765263-39765272 chr18:39765261-39765272 chr18:39765263-39765272 chr18:39765263-39765272
20	CEBPB	chr18:39753625-39753888	HepG2	liver:	n/a	chr18:39753687-39753698
21	CEBPB	chr18:39750942-39751500	HepG2	liver:	n/a	chr18:39751342-39751353
22	CEBPB	chr18:39748546-39748686	HepG2	liver:	n/a	n/a
23	CEBPB	chr18:39756563-39756928	HepG2	liver:	n/a	n/a
24	CEBPB	chr18:39765236-39765310	K562	blood:	n/a	chr18:39765263-39765272 chr18:39765261-39765274 chr18:39765263-39765274 chr18:39765263-39765272 chr18:39765261-39765272 chr18:39765263-39765272 chr18:39765263-39765272
25	CEBPB	chr18:39772756-39773149	A549	lung:	n/a	chr18:39772945-39772956
26	CEBPB	chr18:39772729-39773151	Hela-S3	cervix:	n/a	chr18:39772945-39772956
27	CEBPB	chr18:39802552-39802896	HepG2	liver:	n/a	chr18:39802720-39802731
28	CEBPB	chr18:39802581-39802845	A549	lung:	n/a	chr18:39802720-39802731
29	CEBPB	chr18:39775810-39776051	HepG2	liver:	n/a	chr18:39775912-39775923
30	CEBPB	chr18:39765105-39765439	HepG2	liver:	n/a	chr18:39765263-39765272 chr18:39765261-39765274 chr18:39765263-39765274 chr18:39765263-39765272 chr18:39765261-39765272 chr18:39765263-39765272 chr18:39765263-39765272
31	CEBPB	chr18:39772777-39773099	A549	lung:	n/a	chr18:39772945-39772956
32	CEBPB	chr18:39772684-39773133	HepG2	liver:	n/a	chr18:39772945-39772956
33	CEBPB	chr18:39748421-39748779	HepG2	liver:	n/a	n/a
34	CEBPB	chr18:39756673-39756835	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr18:39772841-39773103	IMR90	lung:	n/a	chr18:39772945-39772956
36	CEBPB	chr18:39802648-39802812	Hela-S3	cervix:	n/a	chr18:39802720-39802731
37	CEBPB	chr18:39765115-39765395	IMR90	lung:	n/a	chr18:39765263-39765272 chr18:39765261-39765274 chr18:39765263-39765274 chr18:39765263-39765272 chr18:39765261-39765272 chr18:39765263-39765272 chr18:39765263-39765272
38	CEBPB	chr18:39802637-39802858	H1-hESC	embryonic stem cell:	n/a	chr18:39802720-39802731
39	CEBPB	chr18:39802553-39802893	IMR90	lung:	n/a	chr18:39802720-39802731
40	CHD1	chr18:39768100-39768768	GM12878	blood:	n/a	n/a
41	CHD1	chr18:39762616-39762819	GM12878	blood:	n/a	n/a
42	CHD1	chr18:39767591-39767769	GM12878	blood:	n/a	n/a
43	CHD2	chr18:39762819-39763035	GM12878	blood:	n/a	n/a
44	CHD2	chr18:39767653-39768363	GM12878	blood:	n/a	n/a
45	CTCF	chr18:39795040-39795190	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr18:39776350-39776387	GM20000	blood:	n/a	n/a
47	CTCF	chr18:39770060-39770210	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr18:39781245-39781267	Lung_OC	lung:	n/a	n/a
49	CTCF	chr18:39795180-39795330	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr18:39766506-39766563	GM13976	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3C3-5	chr18:39766633-39766727	ENSG00000267586.2
2	lnc-PIK3C3-5	chr18:39766633-39766727	ENSG00000267586.2
3	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
4	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
5	lnc-PIK3C3-5	chr18:39766654-39766727	ENSG00000267586.2
6	lnc-PIK3C3-5	chr18:39766650-39766727	ENSG00000267586.2
7	lnc-RIT2-1	chr18:39766366-39766725	XLOC_012829
8	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
9	lnc-PIK3C3-5	chr18:39766635-39766727	ENSG00000267586.2
10	lnc-PIK3C3-5	chr18:39766132-39766356	ENSG00000267586.2
11	lnc-PIK3C3-5	chr18:39766633-39766727	NONHSAT059066
12	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
13	lnc-PIK3C3-5	chr18:39792329-39792491	NONHSAT059066
14	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
15	lnc-PIK3C3-5	chr18:39766633-39766727	NONHSAT059065
16	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
17	lnc-PIK3C3-5	chr18:39792329-39792491	NONHSAT059065
18	lnc-PIK3C3-5	chr18:39792329-39792491	NONHSAT059068
19	lnc-PIK3C3-5	chr18:39766641-39766727	ENSG00000267586.2
20	lnc-PIK3C3-5	chr18:39766633-39766727	NONHSAT059064
21	lnc-PIK3C3-5	chr18:39766635-39766727	ENSG00000267586.2
22	lnc-PIK3C3-5	chr18:39766633-39766727	NONHSAT059068
23	lnc-PIK3C3-5	chr18:39766668-39766727	ENSG00000267586.2
24	lnc-PIK3C3-5	chr18:39792329-39792491	NONHSAT059064
25	lnc-PIK3C3-5	chr18:39792329-39792491	ENSG00000267586.2
26	lnc-PIK3C3-5	chr18:39766657-39766727	ENSG00000267586.2
27	lnc-PIK3C3-5	chr18:39766635-39766727	ENSG00000267586.2

Variant related genes	Relation type
LINC00907	TF binding region
AKAP12	miRNA target sites

Extended variants
information (count: 1154 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574957	chr18:39744969-39744970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184123993	chr18:39744988-39744989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529527629	chr18:39745010-39745011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188766323	chr18:39745032-39745033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145346599	chr18:39745034-39745035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371251384	chr18:39745060-39745061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533151453	chr18:39745063-39745064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191667530	chr18:39745071-39745072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566609979	chr18:39745077-39745078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534844734	chr18:39745080-39745081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13381711	chr18:39745089-39745090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13381139	chr18:39745130-39745131	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538075235	chr18:39745138-39745139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13381123	chr18:39745162-39745163	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147996666	chr18:39745165-39745166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539426878	chr18:39745183-39745184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557916432	chr18:39745219-39745220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572823479	chr18:39745267-39745268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13381725	chr18:39745301-39745302	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs141677411	chr18:39745323-39745324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574278137	chr18:39745362-39745363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544551097	chr18:39745375-39745376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562831371	chr18:39745442-39745443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184672987	chr18:39745444-39745445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544977989	chr18:39745461-39745462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139346696	chr18:39745469-39745470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144133364	chr18:39745472-39745473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546781032	chr18:39745490-39745491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535175464	chr18:39745493-39745494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76783118	chr18:39745539-39745540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529093893	chr18:39745586-39745587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550929662	chr18:39745591-39745592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367833613	chr18:39745628-39745629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569153722	chr18:39745640-39745641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539463076	chr18:39745709-39745710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538652340	chr18:39745787-39745788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566572073	chr18:39745801-39745802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76945514	chr18:39745820-39745821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77691221	chr18:39745850-39745851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147317026	chr18:39745856-39745857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188995094	chr18:39745873-39745874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78732676	chr18:39745876-39745877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201062408	chr18:39745885-39745886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577885457	chr18:39745913-39745914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558699	chr18:39745947-39745948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs560245462	chr18:39745949-39745950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75747038	chr18:39745957-39745958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144574893	chr18:39745961-39745962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561420283	chr18:39746075-39746076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529132241	chr18:39746077-39746078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	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
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39740000-39750000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:39741200-39745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:39743200-39747600	Weak transcription	HepG2	liver
4	chr18:39744600-39745800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:39744800-39745400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:39745800-39746400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr18:39746400-39747400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr18:39747400-39747600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr18:39747600-39748400	ZNF genes & repeats	HepG2	liver
10	chr18:39748400-39748600	Flanking Active TSS	HepG2	liver
11	chr18:39748600-39749000	Enhancers	HepG2	liver
12	chr18:39749000-39749200	Flanking Active TSS	HepG2	liver
13	chr18:39749200-39752800	Enhancers	HepG2	liver
14	chr18:39750400-39750600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:39758000-39759000	Enhancers	Fetal Brain Male	brain
16	chr18:39758600-39758800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:39759600-39760400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:39760000-39762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:39762000-39762200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:39762000-39764200	Enhancers	NH-A	brain
21	chr18:39762000-39764600	Enhancers	HMEC	breast
22	chr18:39762200-39762600	Enhancers	Fetal Heart	heart
23	chr18:39762200-39762800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:39762600-39763000	Weak transcription	Fetal Heart	heart
25	chr18:39762600-39764400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:39762600-39764400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:39762600-39764400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr18:39762600-39764400	Enhancers	HSMM	muscle
29	chr18:39762800-39763600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:39762800-39764200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:39762800-39764400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:39762800-39764400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:39762800-39764400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr18:39762800-39764400	Enhancers	NHEK	skin
35	chr18:39763000-39763600	Enhancers	Fetal Heart	heart
36	chr18:39763000-39764200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:39763000-39764200	Enhancers	A549	lung
38	chr18:39763000-39764200	Enhancers	Osteobl	bone
39	chr18:39763200-39763400	Enhancers	Aorta	Aorta
40	chr18:39763200-39764200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:39763200-39764200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:39763200-39764200	Enhancers	HSMMtube	muscle
43	chr18:39763200-39764200	Enhancers	NHDF-Ad	bronchial
44	chr18:39763200-39764400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr18:39763200-39764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr18:39763400-39764000	Enhancers	Left Ventricle	heart
47	chr18:39763400-39764000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr18:39763400-39764200	Enhancers	Esophagus	oesophagus
49	chr18:39763400-39764200	Enhancers	Hela-S3	cervix
50	chr18:39763800-39764200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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