Variant report

Variant	esv3310788
Chromosome Location	chr14:21208835-21221690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:490)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:21211774-21212120	MCF-7	breast:	n/a	n/a
2	CEBPB	chr14:21211686-21212171	MCF-7	breast:	n/a	n/a
3	EP300	chr14:21220086-21220404	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr14:21220250-21220301	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr14:21211794-21212045	T-47D	breast:	n/a	n/a
6	FOXA1	chr14:21211740-21212047	T-47D	breast:	n/a	n/a
7	GATA3	chr14:21211651-21212228	MCF-7	breast:	n/a	n/a
8	KAP1	chr14:21220224-21220704	U2OS	brain:	n/a	n/a
9	KAP1	chr14:21220398-21220845	K562	blood:	n/a	n/a
10	KAP1	chr14:21220159-21220858	HEK293	kidney:	n/a	n/a
11	MAX	chr14:21220241-21220441	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:21220273-21220412	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:21220207-21220424	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr14:21220201-21220385	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr14:21220701-21220770	H1-hESC	embryonic stem cell:	n/a	n/a
16	SETDB1	chr14:21220046-21221071	U2OS	brain:	n/a	n/a
17	SP1	chr14:21220132-21220448	H1-hESC	embryonic stem cell:	n/a	n/a
18	STAT3	chr14:21217896-21218058	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr14:21220213-21220315	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr14:21220134-21220316	MCF10A-Er-Src	breast:	n/a	n/a
21	ZNF143	chr14:21220536-21220537	K562	blood:	n/a	n/a
22	ZNF217	chr14:21211815-21212028	MCF-7	breast:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:21214682-21214732	BJ	skin:	n/a
2	chr14:21213898-21213948	BJ	skin:	n/a
3	chr14:21214682-21214732	BJ	skin:	n/a
4	chr14:21213898-21213948	BJ	skin:	n/a
5	chr14:21214331-21214381	NB4	blood:	n/a
6	chr14:21214682-21214732	LNCaP	prostate:	n/a
7	chr14:21215971-21216021	H1-hESC	embryonic stem cell:	embryo
8	chr14:21214331-21214381	HIPEpiC	eye:	n/a
9	chr14:21215971-21216021	HCPEpiC	choroid plexus:	n/a
10	chr14:21214078-21214128	PrEC	prostate:	n/a
11	chr14:21216325-21216375	HL-60	blood:	n/a
12	chr14:21214331-21214381	T-47D	breast:	n/a
13	chr14:21213343-21213393	U87	brain:	n/a
14	chr14:21212718-21212768	NH-A	brain:	n/a
15	chr14:21214331-21214381	CMK	blood:	n/a
16	chr14:21213898-21213948	HCF	heart:	n/a
17	chr14:21216325-21216375	GM06990	blood:	n/a
18	chr14:21216325-21216375	HMEC	breast:	n/a
19	chr14:21214331-21214381	PANC-1	pancreas:	n/a
20	chr14:21214682-21214732	Jurkat	blood:	n/a
21	chr14:21215971-21216021	HRCEpiC	kidney:	n/a
22	chr14:21213343-21213393	HRE	kidney:	n/a
23	chr14:21213898-21213948	AG09309	skin:	n/a
24	chr14:21215971-21216021	HIPEpiC	eye:	n/a
25	chr14:21216325-21216375	BE2_C	brain:	n/a
26	chr14:21214682-21214732	HIPEpiC	eye:	n/a
27	chr14:21214078-21214128	Caco-2	colon:	n/a
28	chr14:21214078-21214128	Hela-S3	cervix:	n/a
29	chr14:21214682-21214732	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:21216325-21216375	HepG2	liver:	n/a
31	chr14:21216325-21216375	T-47D	breast:	n/a
32	chr14:21214682-21214732	NT2-D1	testis:	n/a
33	chr14:21212718-21212768	ovcar-3	ovarian:	n/a
34	chr14:21213898-21213948	AG10803	skin:	n/a
35	chr14:21214331-21214381	HCM	heart:	n/a
36	chr14:21214682-21214732	HNPCEpiC	eye:	n/a
37	chr14:21212718-21212768	CMK	blood:	n/a
38	chr14:21212718-21212768	SK-N-SH	brain:	n/a
39	chr14:21213343-21213393	NT2-D1	testis:	n/a
40	chr14:21214331-21214381	HNPCEpiC	eye:	n/a
41	chr14:21213343-21213393	K562	blood:	n/a
42	chr14:21214331-21214381	Caco-2	colon:	n/a
43	chr14:21215971-21216021	HNPCEpiC	eye:	n/a
44	chr14:21213898-21213948	HCT-116	colon:	n/a
45	chr14:21214331-21214381	AG10803	skin:	n/a
46	chr14:21212718-21212768	RPTEC	kidney:	n/a
47	chr14:21215971-21216021	HEEpiC	esophagus:	n/a
48	chr14:21213343-21213393	ovcar-3	ovarian:	n/a
49	chr14:21214078-21214128	HRE	kidney:	n/a
50	chr14:21214682-21214732	H1-hESC	embryonic stem cell:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21214265..21215903-chr14:21220143..21221742,2	MCF-7	breast:
2	chr14:21221271..21223338-chr14:21227917..21230397,2	MCF-7	breast:
3	chr14:21216332..21218814-chr14:21219434..21221917,2	K562	blood:
4	chr14:21214265..21215903-chr14:21220143..21221742,2	MCF-7	breast:
5	chr14:21216332..21218814-chr14:21219434..21221917,2	K562	blood:
6	chr14:21216402..21218717-chr14:21226211..21228244,2	MCF-7	breast:

No data

Variant related genes	Relation type
EDDM3A	TF binding region
EDDM3A	CpG island

Extended variants
information (count: 420 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369539103	chr14:21208836-21208837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370240866	chr14:21208839-21208840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74034387	chr14:21208906-21208907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377477144	chr14:21208932-21208933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74034389	chr14:21208967-21208968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74034390	chr14:21208969-21208970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78160365	chr14:21208995-21208996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12890877	chr14:21208997-21208998	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs541892069	chr14:21209090-21209091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74034391	chr14:21209104-21209105	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74034392	chr14:21209136-21209137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74034394	chr14:21209161-21209162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564404074	chr14:21209173-21209174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74034395	chr14:21209181-21209182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543627218	chr14:21209215-21209216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561831262	chr14:21209239-21209240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113245738	chr14:21209304-21209305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187034487	chr14:21209335-21209336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142682573	chr14:21209367-21209368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55919363	chr14:21209395-21209396	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532934285	chr14:21209427-21209428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147353338	chr14:21209439-21209440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs60811168	chr14:21209451-21209452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573612492	chr14:21209493-21209494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74034396	chr14:21209571-21209572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147996852	chr14:21209579-21209580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141703866	chr14:21209672-21209673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554229430	chr14:21209679-21209680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572394624	chr14:21209695-21209696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150876905	chr14:21209697-21209698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557803419	chr14:21209711-21209712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373575321	chr14:21209717-21209718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543715979	chr14:21209750-21209751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1888563	chr14:21209871-21209872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs542631686	chr14:21209872-21209873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139372344	chr14:21209876-21209877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117174821	chr14:21209897-21209898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1888564	chr14:21209908-21209909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551368660	chr14:21209932-21209933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1888565	chr14:21209951-21209952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539976115	chr14:21209991-21209992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61976904	chr14:21210000-21210001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28409454	chr14:21210011-21210012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1888566	chr14:21210030-21210031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147599289	chr14:21210032-21210033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367928073	chr14:21210069-21210070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568355034	chr14:21210110-21210111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528880560	chr14:21210153-21210154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17308541	chr14:21210166-21210167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs566150263	chr14:21210283-21210284	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21195400-21209400	Weak transcription	Gastric	stomach
2	chr14:21208400-21212800	Enhancers	Placenta	Placenta
3	chr14:21209400-21210800	Enhancers	Gastric	stomach
4	chr14:21210000-21210600	Enhancers	Primary B cells from cord blood	blood
5	chr14:21210200-21211000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:21210600-21211000	Enhancers	Stomach Mucosa	stomach
7	chr14:21211000-21214000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:21212800-21213800	Weak transcription	Placenta	Placenta
9	chr14:21213800-21214000	Enhancers	Placenta	Placenta
10	chr14:21214000-21214600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:21214200-21214400	Enhancers	Lung	lung
12	chr14:21215600-21216800	Enhancers	Duodenum Mucosa	Duodenum
13	chr14:21215800-21216600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr14:21216000-21216400	Enhancers	Lung	lung
15	chr14:21216400-21216600	Weak transcription	Lung	lung
16	chr14:21216600-21217000	Enhancers	Lung	lung
17	chr14:21219800-21221200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr14:21220000-21220800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr14:21220000-21221200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:21220000-21221200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:21220000-21221600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:21220800-21221400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:21221200-21229000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:21221400-21241800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:21221600-21223800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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