Variant report

Variant	nsv1043905
Chromosome Location	chr14:20516279-20530639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr14:20516381-20516636	K562	blood:	n/a	n/a
2	CEBPB	chr14:20522008-20522207	HepG2	liver:	n/a	chr14:20522084-20522095
3	CEBPB	chr14:20524789-20524910	A549	lung:	n/a	n/a
4	CEBPB	chr14:20522010-20522214	K562	blood:	n/a	chr14:20522084-20522095
5	CTCF	chr14:20528560-20528710	HepG2	liver:	n/a	n/a
6	EP300	chr14:20516422-20516661	K562	blood:	n/a	n/a
7	FOS	chr14:20524708-20524991	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:20524678-20525025	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr14:20524680-20525089	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr14:20524679-20525000	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA1	chr14:20516232-20516880	K562	blood:	n/a	n/a
12	JUND	chr14:20516568-20516577	K562	blood:	n/a	n/a
13	MAFF	chr14:20518012-20518057	K562	blood:	n/a	n/a
14	MAFF	chr14:20517892-20518188	HepG2	liver:	n/a	chr14:20518064-20518082
15	MAFK	chr14:20517957-20518144	HepG2	liver:	n/a	chr14:20518070-20518081 chr14:20518070-20518081 chr14:20518069-20518080 chr14:20518065-20518080
16	MAFK	chr14:20518002-20518156	K562	blood:	n/a	chr14:20518070-20518081 chr14:20518070-20518081 chr14:20518069-20518080 chr14:20518065-20518080
17	MAFK	chr14:20517890-20518214	HepG2	liver:	n/a	chr14:20518070-20518081 chr14:20518070-20518081 chr14:20518069-20518080 chr14:20518065-20518080
18	MYC	chr14:20516450-20516638	K562	blood:	n/a	n/a
19	RCOR1	chr14:20516905-20517014	K562	blood:	n/a	n/a
20	RCOR1	chr14:20516353-20516702	K562	blood:	n/a	n/a
21	STAT3	chr14:20524659-20525098	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr14:20524676-20524878	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr14:20520207-20520232	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr14:20524722-20524931	MCF10A-Er-Src	breast:	n/a	n/a
25	TAL1	chr14:20516382-20516711	K562	blood:	n/a	n/a
26	TEAD4	chr14:20516324-20516720	K562	blood:	n/a	n/a
27	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	HEK293	kidney:	embryo
2	chr14:20528812-20528862	HCPEpiC	choroid plexus:	n/a
3	chr14:20528812-20528862	HMEC	breast:	n/a
4	chr14:20528812-20528862	Hela-S3	cervix:	n/a
5	chr14:20528812-20528862	BE2_C	brain:	n/a
6	chr14:20528812-20528862	SAEC	small airway:	n/a
7	chr14:20528812-20528862	HL-60	blood:	n/a
8	chr14:20528812-20528862	A549	lung:	n/a
9	chr14:20528812-20528862	NHDF-neo	bronchial:	n/a
10	chr14:20528812-20528862	HCM	heart:	n/a
11	chr14:20528812-20528862	Hepatocyte	liver:	n/a
12	chr14:20528812-20528862	GM19239	blood:	n/a
13	chr14:20528812-20528862	PFSK-1	brain:	n/a
14	chr14:20528812-20528862	RPTEC	kidney:	n/a
15	chr14:20528812-20528862	AG09319	gingival:	n/a
16	chr14:20528812-20528862	HRCEpiC	kidney:	n/a
17	chr14:20528812-20528862	GM12891	blood:	n/a
18	chr14:20528812-20528862	GM12892	blood:	n/a
19	chr14:20528812-20528862	Jurkat	blood:	n/a
20	chr14:20528812-20528862	HCT-116	colon:	n/a
21	chr14:20528812-20528862	HAEpiC	amniotic membrane:	n/a
22	chr14:20528812-20528862	HNPCEpiC	eye:	n/a
23	chr14:20528812-20528862	T-47D	breast:	n/a
24	chr14:20528812-20528862	HIPEpiC	eye:	n/a
25	chr14:20528812-20528862	NB4	blood:	n/a
26	chr14:20528812-20528862	HPAEpiC	pulmonary alveolar:	n/a
27	chr14:20528812-20528862	U87	brain:	n/a
28	chr14:20528812-20528862	LNCaP	prostate:	n/a
29	chr14:20528812-20528862	MCF10A-Er-Src	breast:	n/a
30	chr14:20528812-20528862	ovcar-3	ovarian:	n/a
31	chr14:20528812-20528862	CMK	blood:	n/a
32	chr14:20528812-20528862	HUVEC	blood vessel:	n/a
33	chr14:20528812-20528862	NHBE	bronchial:	n/a
34	chr14:20528812-20528862	ECC-1	luminal epithelium:	n/a
35	chr14:20528812-20528862	SK-N-SH	brain:	n/a
36	chr14:20528812-20528862	IMR90	lung:	fetal
37	chr14:20528812-20528862	K562	blood:	n/a
38	chr14:20528812-20528862	AG09309	skin:	n/a
39	chr14:20528812-20528862	SKMC	muscle:	n/a
40	chr14:20528812-20528862	HEEpiC	esophagus:	n/a
41	chr14:20528812-20528862	Caco-2	colon:	n/a
42	chr14:20528812-20528862	SK-N-MC	brain:	n/a
43	chr14:20528812-20528862	BJ	skin:	n/a
44	chr14:20528812-20528862	GM06990	blood:	n/a
45	chr14:20528812-20528862	ProgFib	skin:	n/a
46	chr14:20528812-20528862	H1-hESC	embryonic stem cell:	embryo
47	chr14:20528812-20528862	AoSMC	blood vessel:	n/a
48	chr14:20528812-20528862	HepG2	liver:	n/a
49	chr14:20528812-20528862	AG10803	skin:	n/a
50	chr14:20528812-20528862	AG04450	lung:	fetal

(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	chr14:20530040..20532845-chr14:20547946..20550280,2	K562	blood:
3	chr14:20518924..20521802-chr14:20525808..20527615,2	K562	blood:

No data

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

Extended variants
information (count: 126 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77492472	chr14:20516294-20516295	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116059100	chr14:20516297-20516298	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188341099	chr14:20516322-20516323	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1952805	chr14:20516355-20516356	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs145861758	chr14:20516385-20516386	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11158482	chr14:20516394-20516395	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs192530928	chr14:20516411-20516412	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1952806	chr14:20516416-20516417	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1952807	chr14:20516422-20516423	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371811501	chr14:20516458-20516459	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375262337	chr14:20516464-20516465	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557911292	chr14:20516468-20516469	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149008996	chr14:20516491-20516492	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536219213	chr14:20516501-20516502	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543370847	chr14:20516504-20516505	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561849887	chr14:20516603-20516604	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573765796	chr14:20516611-20516612	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545258721	chr14:20516642-20516643	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183708731	chr14:20516696-20516697	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs36033863	chr14:20516740-20516741	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397853243	chr14:20516742-20516743	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559481606	chr14:20516767-20516768	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187335853	chr14:20516778-20516779	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576388378	chr14:20516786-20516787	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563536135	chr14:20516810-20516811	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79159340	chr14:20516835-20516836	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548972124	chr14:20516836-20516837	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34781285	chr14:20516846-20516847	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143629792	chr14:20516875-20516876	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74033797	chr14:20516918-20516919	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561208089	chr14:20517057-20517058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1952810	chr14:20517065-20517066	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374155538	chr14:20517200-20517201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539783965	chr14:20517288-20517289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558434233	chr14:20517292-20517293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576278906	chr14:20517304-20517305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2792164	chr14:20517354-20517355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2775232	chr14:20517369-20517370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192689757	chr14:20517379-20517380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs367726868	chr14:20517490-20517491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35207584	chr14:20517491-20517492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372003991	chr14:20517492-20517493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2775233	chr14:20517501-20517502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs559329843	chr14:20517524-20517525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560920743	chr14:20517546-20517547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193023795	chr14:20520420-20520421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184651274	chr14:20520439-20520440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138980575	chr14:20520445-20520446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs142694091	chr14:20520455-20520456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545883591	chr14:20520462-20520463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20515000-20517000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr14:20515800-20517600	Enhancers	K562	blood
3	chr14:20520400-20521400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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