Variant report

Variant	esv3322535
Chromosome Location	chr14:20703912-20707360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr14:20703774-20704175	HepG2	liver:	n/a	n/a
2	FOXA2	chr14:20703622-20704214	A549	lung:	n/a	n/a
3	FOXA2	chr14:20703837-20704212	A549	lung:	n/a	n/a
4	POLR2A	chr14:20703950-20704130	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:20703927-20704127	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:20704239-20704442	A549	lung:	n/a	n/a
7	SP1	chr14:20703844-20704081	HepG2	liver:	n/a	n/a
8	YY1	chr14:20704274-20704473	A549	lung:	n/a	n/a
9	YY1	chr14:20704257-20704488	HepG2	liver:	n/a	n/a
10	ZNF274	chr14:20705356-20705673	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20704361-20704411	Hela-S3	cervix:	n/a
2	chr14:20704361-20704411	AG10803	skin:	n/a
3	chr14:20704361-20704411	NHBE	bronchial:	n/a
4	chr14:20704361-20704411	HRE	kidney:	n/a
5	chr14:20704361-20704411	BE2_C	brain:	n/a
6	chr14:20704361-20704411	H1-hESC	embryonic stem cell:	embryo
7	chr14:20704361-20704411	A549	lung:	n/a
8	chr14:20704361-20704411	BJ	skin:	n/a
9	chr14:20704361-20704411	RPTEC	kidney:	n/a
10	chr14:20704361-20704411	IMR90	lung:	fetal
11	chr14:20704361-20704411	HRPEpiC	eye:	n/a
12	chr14:20704361-20704411	PANC-1	pancreas:	n/a
13	chr14:20704361-20704411	U87	brain:	n/a
14	chr14:20704361-20704411	SK-N-SH	brain:	n/a
15	chr14:20704361-20704411	HCT-116	colon:	n/a
16	chr14:20704361-20704411	HL-60	blood:	n/a
17	chr14:20704361-20704411	ECC-1	luminal epithelium:	n/a
18	chr14:20704361-20704411	HEK293	kidney:	embryo
19	chr14:20704361-20704411	HCM	heart:	n/a
20	chr14:20704361-20704411	HEEpiC	esophagus:	n/a
21	chr14:20704361-20704411	GM06990	blood:	n/a
22	chr14:20704361-20704411	PrEC	prostate:	n/a
23	chr14:20704361-20704411	HAEpiC	amniotic membrane:	n/a
24	chr14:20704361-20704411	HMEC	breast:	n/a
25	chr14:20704361-20704411	K562	blood:	n/a
26	chr14:20704361-20704411	HIPEpiC	eye:	n/a
27	chr14:20704361-20704411	SK-N-MC	brain:	n/a
28	chr14:20704361-20704411	GM12878	blood:	n/a
29	chr14:20704361-20704411	GM19239	blood:	n/a
30	chr14:20704361-20704411	AG04450	lung:	fetal
31	chr14:20704361-20704411	PFSK-1	brain:	n/a
32	chr14:20704361-20704411	NHDF-neo	bronchial:	n/a
33	chr14:20704361-20704411	HCPEpiC	choroid plexus:	n/a
34	chr14:20704361-20704411	HRCEpiC	kidney:	n/a
35	chr14:20704361-20704411	LNCaP	prostate:	n/a
36	chr14:20704361-20704411	AG04449	skin:	fetal
37	chr14:20704361-20704411	NB4	blood:	n/a
38	chr14:20704361-20704411	HepG2	liver:	n/a
39	chr14:20704361-20704411	AG09319	gingival:	n/a
40	chr14:20704361-20704411	SAEC	small airway:	n/a
41	chr14:20704361-20704411	HUVEC	blood vessel:	n/a
42	chr14:20704361-20704411	HPAEpiC	pulmonary alveolar:	n/a
43	chr14:20704361-20704411	ProgFib	skin:	n/a
44	chr14:20704361-20704411	GM12891	blood:	n/a
45	chr14:20704361-20704411	MCF10A-Er-Src	breast:	n/a
46	chr14:20704361-20704411	AG09309	skin:	n/a
47	chr14:20704361-20704411	Hepatocyte	liver:	n/a
48	chr14:20704361-20704411	Caco-2	colon:	n/a
49	chr14:20704361-20704411	SK-N-SH_RA	brain:	n/a
50	chr14:20704361-20704411	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
OR11H4	TF binding region
OR11H4	CpG island

Extended variants
information (count: 66 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559643301	chr14:20704036-20704037	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577756287	chr14:20704039-20704040	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs545234972	chr14:20704048-20704049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185272299	chr14:20704056-20704057	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368646649	chr14:20704065-20704066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145444675	chr14:20704089-20704090	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548966229	chr14:20704103-20704104	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs189684344	chr14:20704104-20704105	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145961154	chr14:20704110-20704111	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs368770480	chr14:20704115-20704116	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566371627	chr14:20704117-20704118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539597352	chr14:20704118-20704119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138573741	chr14:20704132-20704133	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569778559	chr14:20704140-20704141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376578514	chr14:20704141-20704142	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs145184955	chr14:20704146-20704147	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150830966	chr14:20704150-20704151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs376711183	chr14:20704166-20704167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564044316	chr14:20704173-20704174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535060518	chr14:20704174-20704175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552954258	chr14:20704183-20704184	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs147225786	chr14:20704191-20704192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545198112	chr14:20704195-20704196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144942348	chr14:20704196-20704197	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140726611	chr14:20704202-20704203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542335717	chr14:20704205-20704206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528033351	chr14:20704213-20704214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs185586577	chr14:20704217-20704218	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376558344	chr14:20704236-20704237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373458242	chr14:20704237-20704238	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550477780	chr14:20704255-20704256	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs559765936	chr14:20704258-20704259	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191927518	chr14:20704263-20704264	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs139833315	chr14:20704283-20704284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183353125	chr14:20704288-20704289	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551689706	chr14:20704292-20704293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373656170	chr14:20704293-20704294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs189256506	chr14:20704303-20704304	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537292479	chr14:20704308-20704309	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549198126	chr14:20704310-20704311	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567760297	chr14:20704311-20704312	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193089203	chr14:20704313-20704314	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs183900906	chr14:20704322-20704323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145366201	chr14:20704325-20704326	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555381050	chr14:20704353-20704354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186671648	chr14:20704361-20704362	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575508018	chr14:20704362-20704363	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191173010	chr14:20704371-20704372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184054100	chr14:20704393-20704394	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs572917070	chr14:20704399-20704400	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20704000-20704400	Active TSS	HepG2	liver
2	chr14:20707000-20707200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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