Variant report

Variant	esv2758724
Chromosome Location	chr18:39384410-39432678
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	chr18:39409734-39409963	HepG2	liver:	n/a	n/a
2	BACH1	chr18:39389713-39389970	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr18:39409709-39410395	Hela-S3	cervix:	n/a	chr18:39410198-39410209 chr18:39410275-39410288
4	CEBPB	chr18:39424255-39424506	HepG2	liver:	n/a	n/a
5	CEBPB	chr18:39410137-39410222	H1-hESC	embryonic stem cell:	n/a	chr18:39410198-39410209
6	CEBPB	chr18:39410072-39410342	HepG2	liver:	n/a	chr18:39410198-39410209 chr18:39410275-39410288
7	CEBPB	chr18:39410124-39410266	K562	blood:	n/a	chr18:39410198-39410209
8	CEBPB	chr18:39423166-39423269	IMR90	lung:	n/a	n/a
9	CEBPB	chr18:39389693-39389933	H1-hESC	embryonic stem cell:	n/a	chr18:39389779-39389790
10	CEBPB	chr18:39420146-39420223	HepG2	liver:	n/a	n/a
11	CEBPB	chr18:39389675-39389876	Hela-S3	cervix:	n/a	chr18:39389779-39389790
12	CEBPB	chr18:39389671-39389917	HepG2	liver:	n/a	chr18:39389779-39389790
13	CTCF	chr18:39413756-39413808	ProgFib	skin:	n/a	n/a
14	CTCF	chr18:39414800-39414950	HEK293	kidney:	n/a	n/a
15	CTCF	chr18:39414840-39414990	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:39392120-39392270	HEK293	kidney:	n/a	n/a
17	CTCF	chr18:39414840-39414990	HEK293	kidney:	n/a	n/a
18	CTCF	chr18:39431060-39431210	HRE	kidney:	n/a	chr18:39431170-39431188
19	CTCF	chr18:39416734-39416861	K562	blood:	n/a	n/a
20	CTCF	chr18:39431000-39431150	HFF	foreskin:	n/a	n/a
21	CUX1	chr18:39420852-39421040	K562	blood:	n/a	n/a
22	E2F4	chr18:39419138-39419256	MCF10A-Er-Src	breast:	n/a	n/a
23	ELK1	chr18:39411697-39411704	Hela-S3	cervix:	n/a	n/a
24	EP300	chr18:39409625-39409957	SK-N-SH_RA	brain:	n/a	chr18:39409827-39409836
25	EP300	chr18:39409605-39409980	SK-N-SH_RA	brain:	n/a	chr18:39409827-39409836
26	EP300	chr18:39425326-39425351	K562	blood:	n/a	n/a
27	FOS	chr18:39409798-39409947	MCF10A-Er-Src	breast:	n/a	chr18:39409827-39409837 chr18:39409828-39409837 chr18:39409827-39409837 chr18:39409827-39409837
28	FOS	chr18:39422856-39423200	MCF10A-Er-Src	breast:	n/a	chr18:39423103-39423110
29	FOS	chr18:39425508-39425920	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr18:39424241-39424438	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr18:39422858-39423189	MCF10A-Er-Src	breast:	n/a	chr18:39423103-39423110
32	FOS	chr18:39422870-39423189	MCF10A-Er-Src	breast:	n/a	chr18:39423103-39423110
33	FOS	chr18:39425508-39425879	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr18:39406049-39406249	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr18:39406176-39406383	MCF10A-Er-Src	breast:	n/a	chr18:39406272-39406284
36	FOS	chr18:39389674-39389851	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr18:39424258-39424458	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr18:39425509-39426015	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr18:39419223-39419405	MCF10A-Er-Src	breast:	n/a	chr18:39419289-39419300
40	FOS	chr18:39425508-39425878	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr18:39389643-39389843	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr18:39386402-39386476	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr18:39409808-39409827	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr18:39422880-39423160	MCF10A-Er-Src	breast:	n/a	chr18:39423103-39423110
45	FOS	chr18:39424261-39424511	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL2	chr18:39409715-39409961	HepG2	liver:	n/a	chr18:39409827-39409837 chr18:39409828-39409837 chr18:39409827-39409838 chr18:39409827-39409837 chr18:39409827-39409837
47	FOSL2	chr18:39409610-39409981	HepG2	liver:	n/a	chr18:39409827-39409837 chr18:39409828-39409837 chr18:39409827-39409838 chr18:39409827-39409837 chr18:39409827-39409837
48	FOXA1	chr18:39409656-39409998	HepG2	liver:	n/a	n/a
49	FOXA1	chr18:39409707-39409988	HepG2	liver:	n/a	n/a
50	FOXA1	chr18:39409663-39409970	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3C3-4	chr18:39399018-39399386	NONHSAT059056

Variant related genes	Relation type
ENSG00000225253	TF binding region

Extended variants
information (count: 1568 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1568 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1541896	chr18:39384410-39384411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540662837	chr18:39384411-39384412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191152679	chr18:39384413-39384414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372803949	chr18:39384420-39384421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183854240	chr18:39384438-39384439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142288748	chr18:39384463-39384464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116593112	chr18:39384476-39384477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113974289	chr18:39384483-39384484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559262388	chr18:39384507-39384508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193285242	chr18:39384518-39384519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544694764	chr18:39384557-39384558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201840194	chr18:39384566-39384567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540622134	chr18:39384609-39384610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558952871	chr18:39384662-39384663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12608352	chr18:39384663-39384664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146071073	chr18:39384666-39384667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541575114	chr18:39384677-39384678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151224019	chr18:39384714-39384715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563877689	chr18:39384715-39384716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12608377	chr18:39384721-39384722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138383242	chr18:39384743-39384744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552792334	chr18:39384815-39384816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200677872	chr18:39384858-39384859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374517040	chr18:39384859-39384860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571045385	chr18:39384861-39384862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201901624	chr18:39384870-39384871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552808352	chr18:39384877-39384878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184753658	chr18:39384902-39384903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564685215	chr18:39384908-39384909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187626040	chr18:39384920-39384921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568483332	chr18:39384938-39384939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535927032	chr18:39384945-39384946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191291808	chr18:39384980-39384981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569794301	chr18:39385000-39385001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536844783	chr18:39385005-39385006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183485878	chr18:39385012-39385013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112211797	chr18:39385032-39385033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149256517	chr18:39385101-39385102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552515778	chr18:39385179-39385180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112878406	chr18:39385221-39385222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144435811	chr18:39385229-39385230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16975325	chr18:39385234-39385235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563244654	chr18:39385262-39385263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8087509	chr18:39385339-39385340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142431824	chr18:39385357-39385358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564695457	chr18:39385368-39385369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550344340	chr18:39385377-39385378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146371433	chr18:39385383-39385384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139661851	chr18:39385403-39385404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117173642	chr18:39385413-39385414	Weak transcription	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39383000-39385000	Weak transcription	Fetal Intestine Large	intestine
2	chr18:39385000-39385200	Enhancers	Fetal Intestine Large	intestine
3	chr18:39385200-39385600	Weak transcription	Fetal Intestine Large	intestine
4	chr18:39385600-39386000	Enhancers	Fetal Intestine Large	intestine
5	chr18:39389800-39390400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:39394400-39395200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:39395000-39395200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr18:39395200-39397000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:39395600-39396400	Enhancers	Fetal Stomach	stomach
10	chr18:39396800-39397200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:39397000-39397200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:39397000-39397200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:39397000-39397400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:39397000-39397600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr18:39397000-39398600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr18:39397000-39398800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr18:39397200-39398400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr18:39397200-39398600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:39397200-39398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr18:39397400-39398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:39397800-39398400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr18:39397800-39398600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr18:39398000-39398400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr18:39398400-39398600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr18:39398400-39399200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:39399200-39401800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:39401800-39402000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr18:39401800-39402000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr18:39402000-39407800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr18:39405000-39405400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:39405400-39405800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:39405800-39406600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:39406000-39406400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:39406400-39422800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:39406600-39406800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:39406600-39408000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr18:39406800-39407200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:39407200-39408600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:39407600-39408000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr18:39407800-39408000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:39407800-39410800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr18:39408000-39408200	Enhancers	Hela-S3	cervix
43	chr18:39408000-39419800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr18:39408400-39409400	Weak transcription	Hela-S3	cervix
45	chr18:39409400-39410000	Enhancers	Hela-S3	cervix
46	chr18:39419400-39420400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr18:39419800-39420200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:39420200-39428600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr18:39420400-39420800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr18:39420400-39421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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