Variant report

Variant	esv2421843
Chromosome Location	chr14:20520955-20539362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:20522008-20522207	HepG2	liver:	n/a	chr14:20522084-20522095
2	CEBPB	chr14:20524789-20524910	A549	lung:	n/a	n/a
3	CEBPB	chr14:20522010-20522214	K562	blood:	n/a	chr14:20522084-20522095
4	CTCF	chr14:20528560-20528710	HepG2	liver:	n/a	n/a
5	FOS	chr14:20524679-20525000	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr14:20524680-20525089	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr14:20524708-20524991	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:20537628-20537821	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:20524678-20525025	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr14:20537710-20537864	HepG2	liver:	n/a	n/a
11	JUND	chr14:20537662-20537938	HepG2	liver:	n/a	chr14:20537761-20537772
12	SETDB1	chr14:20534102-20534631	U2OS	brain:	n/a	n/a
13	SETDB1	chr14:20533438-20533809	U2OS	brain:	n/a	n/a
14	STAT3	chr14:20524722-20524931	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr14:20524676-20524878	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr14:20532700-20532782	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr14:20524659-20525098	MCF10A-Er-Src	breast:	n/a	n/a
18	UBTF	chr14:20525966-20525982	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20528812-20528862	NT2-D1	testis:	n/a
2	chr14:20528812-20528862	HCPEpiC	choroid plexus:	n/a
3	chr14:20528812-20528862	GM12891	blood:	n/a
4	chr14:20528812-20528862	HL-60	blood:	n/a
5	chr14:20528812-20528862	SK-N-SH	brain:	n/a
6	chr14:20528812-20528862	NB4	blood:	n/a
7	chr14:20528812-20528862	AG10803	skin:	n/a
8	chr14:20528812-20528862	AoSMC	blood vessel:	n/a
9	chr14:20528812-20528862	GM12892	blood:	n/a
10	chr14:20528812-20528862	ProgFib	skin:	n/a
11	chr14:20528812-20528862	MCF-7	breast:	n/a
12	chr14:20528812-20528862	SKMC	muscle:	n/a
13	chr14:20528812-20528862	SK-N-SH_RA	brain:	n/a
14	chr14:20528812-20528862	BE2_C	brain:	n/a
15	chr14:20528812-20528862	Hela-S3	cervix:	n/a
16	chr14:20528812-20528862	HUVEC	blood vessel:	n/a
17	chr14:20528812-20528862	HMEC	breast:	n/a
18	chr14:20528812-20528862	PFSK-1	brain:	n/a
19	chr14:20528812-20528862	HEEpiC	esophagus:	n/a
20	chr14:20528812-20528862	MCF10A-Er-Src	breast:	n/a
21	chr14:20528812-20528862	T-47D	breast:	n/a
22	chr14:20528812-20528862	NH-A	brain:	n/a
23	chr14:20528812-20528862	BJ	skin:	n/a
24	chr14:20528812-20528862	NHBE	bronchial:	n/a
25	chr14:20528812-20528862	Caco-2	colon:	n/a
26	chr14:20528812-20528862	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:20528812-20528862	HepG2	liver:	n/a
28	chr14:20528812-20528862	GM06990	blood:	n/a
29	chr14:20528812-20528862	HAEpiC	amniotic membrane:	n/a
30	chr14:20528812-20528862	Jurkat	blood:	n/a
31	chr14:20528812-20528862	SAEC	small airway:	n/a
32	chr14:20528812-20528862	AG04450	lung:	fetal
33	chr14:20528812-20528862	ovcar-3	ovarian:	n/a
34	chr14:20528812-20528862	HRE	kidney:	n/a
35	chr14:20528812-20528862	HRPEpiC	eye:	n/a
36	chr14:20528812-20528862	PrEC	prostate:	n/a
37	chr14:20528812-20528862	GM12878	blood:	n/a
38	chr14:20528812-20528862	HRCEpiC	kidney:	n/a
39	chr14:20528812-20528862	HCM	heart:	n/a
40	chr14:20528812-20528862	LNCaP	prostate:	n/a
41	chr14:20528812-20528862	K562	blood:	n/a
42	chr14:20528812-20528862	HEK293	kidney:	embryo
43	chr14:20528812-20528862	HCF	heart:	n/a
44	chr14:20528812-20528862	SK-N-MC	brain:	n/a
45	chr14:20528812-20528862	AG04449	skin:	fetal
46	chr14:20528812-20528862	HCT-116	colon:	n/a
47	chr14:20528812-20528862	NHDF-neo	bronchial:	n/a
48	chr14:20528812-20528862	H1-hESC	embryonic stem cell:	embryo
49	chr14:20528812-20528862	IMR90	lung:	fetal
50	chr14:20528812-20528862	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:
2	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:
3	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:

No data

Variant related genes	Relation type
OR4L1	TF binding region
OR4L1	CpG island

Extended variants
information (count: 74 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1953993	chr14:20520955-20520956	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113448604	chr14:20520956-20520957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74033799	chr14:20520957-20520958	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376742039	chr14:20520961-20520962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144766775	chr14:20520979-20520980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs192974162	chr14:20521058-20521059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1953992	chr14:20521060-20521061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550444805	chr14:20521069-20521070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148555172	chr14:20521070-20521071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs1953991	chr14:20521104-20521105	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs142937968	chr14:20521151-20521152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572626525	chr14:20521173-20521174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs184091600	chr14:20521191-20521192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557712576	chr14:20521202-20521203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146152070	chr14:20521216-20521217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs115913376	chr14:20521247-20521248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140201825	chr14:20521268-20521269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs143542825	chr14:20521282-20521283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146794113	chr14:20521287-20521288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140480843	chr14:20521308-20521309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs188531479	chr14:20521316-20521317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs545051803	chr14:20521320-20521321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117523288	chr14:20521331-20521332	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111890834	chr14:20521380-20521381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560338073	chr14:20524691-20524692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs192489768	chr14:20524735-20524736	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs1959633	chr14:20524742-20524743	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75596279	chr14:20524789-20524790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531482525	chr14:20524798-20524799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs141399676	chr14:20524823-20524824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs568041852	chr14:20524877-20524878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs535069247	chr14:20524879-20524880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377442182	chr14:20524880-20524881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs547469202	chr14:20524888-20524889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs74037205	chr14:20524931-20524932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534406048	chr14:20524936-20524937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559178164	chr14:20524941-20524942	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs373628518	chr14:20524944-20524945	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116405648	chr14:20524954-20524955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs72669021	chr14:20524956-20524957	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556323458	chr14:20524958-20524959	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs183777193	chr14:20524968-20524969	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2994416	chr14:20524976-20524977	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187991448	chr14:20524977-20524978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs76316569	chr14:20524979-20524980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs202121196	chr14:20524985-20524986	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147005318	chr14:20525006-20525007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs2994415	chr14:20525016-20525017	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs192393595	chr14:20525032-20525033	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs116738763	chr14:20525059-20525060	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20520400-20521400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr14:20533000-20533400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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