Variant report

Variant	esv3356498
Chromosome Location	chr15:82943922-82947270
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:263)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:82944794-82944809	K562	blood:	n/a	n/a
2	BATF	chr15:82944111-82945156	GM12878	blood:	n/a	n/a
3	BATF	chr15:82946619-82946832	GM12878	blood:	n/a	n/a
4	BATF	chr15:82944170-82944728	GM12878	blood:	n/a	n/a
5	BATF	chr15:82946072-82946394	GM12878	blood:	n/a	n/a
6	BATF	chr15:82945410-82945664	GM12878	blood:	n/a	n/a
7	BATF	chr15:82946030-82946597	GM12878	blood:	n/a	n/a
8	BCL11A	chr15:82946544-82946819	GM12878	blood:	n/a	n/a
9	BCL11A	chr15:82945331-82945697	GM12878	blood:	n/a	chr15:82945466-82945479
10	BCL11A	chr15:82945364-82945610	GM12878	blood:	n/a	chr15:82945466-82945479
11	BCL11A	chr15:82944072-82945102	GM12878	blood:	n/a	chr15:82945033-82945041
12	BCL11A	chr15:82944227-82945197	GM12878	blood:	n/a	chr15:82945033-82945041
13	BCL11A	chr15:82946451-82946821	GM12878	blood:	n/a	n/a
14	BCL11A	chr15:82946059-82946427	GM12878	blood:	n/a	chr15:82946309-82946318
15	BCL11A	chr15:82946006-82946351	GM12878	blood:	n/a	chr15:82946309-82946318
16	BHLHE40	chr15:82944616-82944989	K562	blood:	n/a	n/a
17	BHLHE40	chr15:82944792-82944831	GM12878	blood:	n/a	n/a
18	BHLHE40	chr15:82944511-82945054	HepG2	liver:	n/a	n/a
19	CBX3	chr15:82944401-82945015	K562	blood:	n/a	n/a
20	CEBPB	chr15:82944634-82944817	K562	blood:	n/a	n/a
21	CEBPB	chr15:82944619-82944934	K562	blood:	n/a	n/a
22	CHD2	chr15:82944617-82944828	K562	blood:	n/a	n/a
23	CHD2	chr15:82944632-82944812	GM12878	blood:	n/a	n/a
24	CTCF	chr15:82944203-82945182	A549	lung:	n/a	n/a
25	CTCF	chr15:82944611-82944956	K562	blood:	n/a	n/a
26	CTCF	chr15:82944630-82945057	K562	blood:	n/a	n/a
27	CTCF	chr15:82944581-82945159	A549	lung:	n/a	n/a
28	E2F6	chr15:82944730-82944852	K562	blood:	n/a	n/a
29	EBF1	chr15:82946028-82946371	GM12878	blood:	n/a	n/a
30	EBF1	chr15:82945335-82945746	GM12878	blood:	n/a	chr15:82945458-82945467
31	EBF1	chr15:82946544-82946963	GM12878	blood:	n/a	n/a
32	EBF1	chr15:82945975-82946372	GM12878	blood:	n/a	n/a
33	EBF1	chr15:82944117-82945741	GM12878	blood:	n/a	chr15:82945458-82945467
34	EBF1	chr15:82946631-82946902	GM12878	blood:	n/a	n/a
35	EBF1	chr15:82944059-82945098	GM12878	blood:	n/a	n/a
36	EGR1	chr15:82944730-82944854	K562	blood:	n/a	chr15:82944818-82944828
37	EGR1	chr15:82944724-82944871	K562	blood:	n/a	chr15:82944818-82944828
38	EP300	chr15:82944258-82944740	GM12878	blood:	n/a	n/a
39	EP300	chr15:82945229-82945725	GM12878	blood:	n/a	chr15:82945560-82945569 chr15:82945698-82945712 chr15:82945700-82945714 chr15:82945563-82945572 chr15:82945471-82945487 chr15:82945599-82945608 chr15:82945563-82945579 chr15:82945699-82945713
40	EP300	chr15:82944125-82945200	GM12878	blood:	n/a	chr15:82945164-82945180 chr15:82945168-82945184
41	FOS	chr15:82944612-82944828	K562	blood:	n/a	n/a
42	FOSL2	chr15:82944141-82944962	HepG2	liver:	n/a	n/a
43	FOSL2	chr15:82945961-82946913	HepG2	liver:	n/a	n/a
44	FOSL2	chr15:82945908-82946862	HepG2	liver:	n/a	n/a
45	FOSL2	chr15:82944141-82945722	HepG2	liver:	n/a	chr15:82945222-82945231 chr15:82945466-82945475
46	FOXA1	chr15:82944178-82945051	HepG2	liver:	n/a	n/a
47	FOXA1	chr15:82945332-82945655	HepG2	liver:	n/a	n/a
48	FOXA1	chr15:82944713-82944868	T-47D	breast:	n/a	n/a
49	FOXA2	chr15:82944419-82945182	A549	lung:	n/a	n/a
50	FOXA2	chr15:82944540-82945035	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82944287-82944337	MCF10A-Er-Src	breast:	n/a
2	chr15:82944254-82944304	GM06990	blood:	n/a
3	chr15:82944287-82944337	Hepatocyte	liver:	n/a
4	chr15:82944287-82944337	SK-N-SH	brain:	n/a
5	chr15:82944287-82944337	NHDF-neo	bronchial:	n/a
6	chr15:82944287-82944337	HEK293	kidney:	embryo
7	chr15:82944254-82944304	LNCaP	prostate:	n/a
8	chr15:82944254-82944304	NH-A	brain:	n/a
9	chr15:82944287-82944337	RPTEC	kidney:	n/a
10	chr15:82944287-82944337	ProgFib	skin:	n/a
11	chr15:82944287-82944337	HAEpiC	amniotic membrane:	n/a
12	chr15:82944254-82944304	HRCEpiC	kidney:	n/a
13	chr15:82944254-82944304	ovcar-3	ovarian:	n/a
14	chr15:82944287-82944337	GM12878	blood:	n/a
15	chr15:82944287-82944337	Hela-S3	cervix:	n/a
16	chr15:82944254-82944304	MCF-7	breast:	n/a
17	chr15:82944287-82944337	MCF-7	breast:	n/a
18	chr15:82944254-82944304	HMEC	breast:	n/a
19	chr15:82944287-82944337	PANC-1	pancreas:	n/a
20	chr15:82944287-82944337	LNCaP	prostate:	n/a
21	chr15:82944254-82944304	HCM	heart:	n/a
22	chr15:82944254-82944304	AG09319	gingival:	n/a
23	chr15:82944254-82944304	T-47D	breast:	n/a
24	chr15:82944254-82944304	HIPEpiC	eye:	n/a
25	chr15:82944287-82944337	GM12892	blood:	n/a
26	chr15:82944287-82944337	GM19239	blood:	n/a
27	chr15:82944254-82944304	PrEC	prostate:	n/a
28	chr15:82944287-82944337	PrEC	prostate:	n/a
29	chr15:82944287-82944337	AG09309	skin:	n/a
30	chr15:82944287-82944337	HCF	heart:	n/a
31	chr15:82944287-82944337	Caco-2	colon:	n/a
32	chr15:82944254-82944304	Caco-2	colon:	n/a
33	chr15:82944287-82944337	HCPEpiC	choroid plexus:	n/a
34	chr15:82944254-82944304	BJ	skin:	n/a
35	chr15:82944287-82944337	SK-N-SH_RA	brain:	n/a
36	chr15:82944287-82944337	HRE	kidney:	n/a
37	chr15:82944254-82944304	HL-60	blood:	n/a
38	chr15:82944287-82944337	HRPEpiC	eye:	n/a
39	chr15:82944254-82944304	Hela-S3	cervix:	n/a
40	chr15:82944287-82944337	AoSMC	blood vessel:	n/a
41	chr15:82944254-82944304	HCF	heart:	n/a
42	chr15:82944287-82944337	HCT-116	colon:	n/a
43	chr15:82944287-82944337	HIPEpiC	eye:	n/a
44	chr15:82944287-82944337	AG04449	skin:	fetal
45	chr15:82944287-82944337	AG09319	gingival:	n/a
46	chr15:82944287-82944337	U87	brain:	n/a
47	chr15:82944287-82944337	H1-hESC	embryonic stem cell:	embryo
48	chr15:82944254-82944304	GM19239	blood:	n/a
49	chr15:82944287-82944337	HNPCEpiC	eye:	n/a
50	chr15:82944287-82944337	BJ	skin:	n/a

No data

Variant related genes	Relation type
ENSG00000259328	TF binding region
GOLGA6L18	TF binding region
ENSG00000259328	CpG island
GOLGA6L18	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113206471	chr15:82944329-82944330	Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs539366409	chr15:82945671-82945672	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112055686	chr15:82945697-82945698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181074183	chr15:82945748-82945749	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373657694	chr15:82945775-82945776	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82944200-82944600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:82944200-82945200	Active TSS	Fetal Intestine Large	intestine
3	chr15:82944200-82945400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr15:82944200-82945800	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:82944600-82945000	Active TSS	K562	blood
6	chr15:82944600-82945200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:82944600-82945400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:82944800-82945200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:82944800-82945200	Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr15:82944800-82945200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:82944800-82945200	Active TSS	Fetal Stomach	stomach
12	chr15:82944800-82945200	Active TSS	HSMMtube	muscle
13	chr15:82944800-82945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:82944800-82945400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr15:82944800-82945400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:82944800-82945400	Active TSS	Fetal Brain Female	brain
17	chr15:82944800-82945400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr15:82944800-82945400	Active TSS	Ovary	ovary
19	chr15:82944800-82945400	Active TSS	Pancreas	Pancrea
20	chr15:82944800-82945400	Active TSS	Right Atrium	heart
21	chr15:82944800-82945400	Active TSS	HSMM	muscle
22	chr15:82944800-82945800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:82945000-82945400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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