Variant report

Variant	esv2830246
Chromosome Location	chr14:37417440-37424770
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	CBX3	chr14:37421832-37422323	HCT-116	colon:	n/a	n/a
2	CEBPB	chr14:37420730-37421081	IMR90	lung:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
3	CEBPB	chr14:37420757-37421099	A549	lung:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
4	CEBPB	chr14:37420742-37421006	K562	blood:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
5	CEBPB	chr14:37420816-37421152	MCF-7	breast:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
6	CEBPB	chr14:37420867-37420979	H1-hESC	embryonic stem cell:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
7	CEBPB	chr14:37420759-37421094	K562	blood:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
8	CEBPB	chr14:37421303-37421489	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr14:37420732-37421113	HepG2	liver:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
10	CEBPB	chr14:37420699-37421175	MCF-7	breast:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
11	CEBPB	chr14:37420750-37421090	Hela-S3	cervix:	n/a	chr14:37420913-37420926 chr14:37420915-37420924 chr14:37420915-37420924 chr14:37420913-37420926 chr14:37420817-37420828 chr14:37420915-37420926 chr14:37420913-37420924 chr14:37420915-37420924 chr14:37420915-37420926 chr14:37420913-37420926 chr14:37420915-37420924
12	CTCF	chr14:37417869-37417895	GM13976	blood:	n/a	n/a
13	CTCF	chr14:37422695-37422730	K562	blood:	n/a	n/a
14	EP300	chr14:37417734-37417857	GM12878	blood:	n/a	n/a
15	EP300	chr14:37421865-37422320	Hela-S3	cervix:	n/a	n/a
16	FOS	chr14:37421941-37422245	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr14:37424736-37424813	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr14:37421941-37422329	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr14:37421928-37422243	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr14:37421924-37422447	Hela-S3	cervix:	n/a	n/a
21	FOS	chr14:37421915-37422311	MCF10A-Er-Src	breast:	n/a	n/a
22	FOSL1	chr14:37421798-37422250	HCT-116	colon:	n/a	n/a
23	FOSL1	chr14:37421831-37422352	HCT-116	colon:	n/a	n/a
24	FOSL2	chr14:37421904-37422334	A549	lung:	n/a	n/a
25	FOXA1	chr14:37417227-37417610	T-47D	breast:	n/a	chr14:37417515-37417527
26	FOXA2	chr14:37421968-37422296	A549	lung:	n/a	n/a
27	FOXA2	chr14:37421943-37422333	A549	lung:	n/a	n/a
28	GATA3	chr14:37421880-37422424	MCF-7	breast:	n/a	n/a
29	GATA3	chr14:37421847-37422500	A549	lung:	n/a	n/a
30	GATA3	chr14:37424376-37425180	MCF-7	breast:	n/a	n/a
31	GATA3	chr14:37421789-37422443	MCF-7	breast:	n/a	n/a
32	GATA3	chr14:37424624-37425027	MCF-7	breast:	n/a	n/a
33	JUND	chr14:37421867-37422383	HCT-116	colon:	n/a	n/a
34	MAFF	chr14:37420583-37420975	HepG2	liver:	n/a	n/a
35	MAFF	chr14:37420614-37420960	K562	blood:	n/a	n/a
36	MAFK	chr14:37420566-37420966	HepG2	liver:	n/a	n/a
37	MAFK	chr14:37420638-37420877	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAFK	chr14:37420505-37420967	IMR90	lung:	n/a	n/a
39	MAFK	chr14:37420622-37420950	K562	blood:	n/a	n/a
40	MAFK	chr14:37419847-37420025	H1-hESC	embryonic stem cell:	n/a	chr14:37419973-37419984
41	MAFK	chr14:37420475-37421024	HepG2	liver:	n/a	n/a
42	MAFK	chr14:37420612-37420950	Hela-S3	cervix:	n/a	n/a
43	MAFK	chr14:37421926-37422254	Hela-S3	cervix:	n/a	n/a
44	MYC	chr14:37422464-37422497	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr14:37422128-37422186	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr14:37421316-37421403	MCF-7	breast:	n/a	n/a
47	NR3C1	chr14:37421874-37422240	A549	lung:	n/a	chr14:37422157-37422183
48	POLR2A	chr14:37420409-37420552	MCF10A-Er-Src	breast:	n/a	n/a
49	RCOR1	chr14:37421872-37422287	Hela-S3	cervix:	n/a	n/a
50	SP1	chr14:37421839-37422362	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:37411507..37413747-chr14:37421697..37425494,3	K562	blood:
2	chr14:37419637..37421384-chr14:37428172..37430994,2	K562	blood:
3	chr14:37413981..37415781-chr14:37417147..37418883,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4503	chr14:37421563-37421584	MIMAT0019039

Variant related genes	Relation type
MIR4503	TF binding region

Extended variants
information (count: 230 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1429842	chr14:37417440-37417441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552252087	chr14:37417507-37417508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565597324	chr14:37417519-37417520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528177842	chr14:37417643-37417644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145474904	chr14:37417686-37417687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77179051	chr14:37417772-37417773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79526528	chr14:37417790-37417791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557205779	chr14:37417813-37417814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185035309	chr14:37417853-37417854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117494514	chr14:37417901-37417902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189963664	chr14:37417934-37417935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74045205	chr14:37417951-37417952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372098521	chr14:37417966-37417967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567872398	chr14:37417969-37417970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542287848	chr14:37418017-37418018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573539353	chr14:37418087-37418088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555513277	chr14:37418128-37418129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182129481	chr14:37418147-37418148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528014179	chr14:37418217-37418218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543760606	chr14:37418230-37418231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140225396	chr14:37418243-37418244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187058946	chr14:37418329-37418330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375646813	chr14:37418378-37418379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59381342	chr14:37418442-37418443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568877132	chr14:37418490-37418491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559493850	chr14:37418505-37418506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191127872	chr14:37418517-37418518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538332334	chr14:37418520-37418521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113488921	chr14:37418561-37418562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36019504	chr14:37418585-37418586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567731259	chr14:37418630-37418631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530381542	chr14:37418667-37418668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7143097	chr14:37418720-37418721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs557862345	chr14:37418726-37418727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570852552	chr14:37418746-37418747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540124652	chr14:37418753-37418754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546906422	chr14:37418757-37418758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573000353	chr14:37418848-37418849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180688213	chr14:37419031-37419032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185356486	chr14:37419046-37419047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555869158	chr14:37419065-37419066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575710611	chr14:37419067-37419068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190012864	chr14:37419112-37419113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540299204	chr14:37419177-37419178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145601574	chr14:37419199-37419200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577254992	chr14:37419205-37419206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553616268	chr14:37419208-37419209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575042364	chr14:37419234-37419235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542547711	chr14:37419299-37419300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376441072	chr14:37419354-37419355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Cancer	20164919	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37413800-37437400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:37414000-37420000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:37414200-37424800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:37414400-37420600	Weak transcription	HSMM	muscle
5	chr14:37414600-37421600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:37414800-37421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:37417200-37419800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:37417400-37420400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:37419400-37420400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:37419600-37420400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:37419800-37420400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:37420000-37420800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:37420000-37420800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr14:37420400-37423200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:37420400-37423200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr14:37420400-37423400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:37420400-37425200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr14:37420600-37420800	Enhancers	HSMM	muscle
19	chr14:37420800-37421200	Weak transcription	HSMM	muscle
20	chr14:37421000-37421200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:37421000-37424800	Enhancers	HSMMtube	muscle
22	chr14:37421200-37421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:37421200-37425000	Enhancers	HSMM	muscle
24	chr14:37421600-37422400	Enhancers	Hela-S3	cervix
25	chr14:37421600-37422600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:37421600-37422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:37421800-37422400	Enhancers	HMEC	breast
28	chr14:37421800-37422600	Enhancers	A549	lung
29	chr14:37421800-37422600	Enhancers	NHEK	skin
30	chr14:37421800-37422800	Enhancers	Osteobl	bone
31	chr14:37421800-37424200	Enhancers	NHDF-Ad	bronchial
32	chr14:37422000-37422400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:37422400-37423200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:37422400-37423400	Weak transcription	HMEC	breast
35	chr14:37422600-37425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:37422800-37424200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:37423200-37423600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:37423200-37423600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:37423200-37423600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr14:37423400-37423600	Enhancers	HMEC	breast
41	chr14:37423400-37424000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:37423600-37426600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:37423600-37428400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr14:37424200-37424400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:37424200-37424800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:37424600-37424800	Enhancers	Osteobl	bone

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