Variant report

Variant	nsv983892
Chromosome Location	chr14:20428438-20468660
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	chr14:20450329-20450560	K562	blood:	n/a	n/a
2	CEBPB	chr14:20439826-20440010	IMR90	lung:	n/a	chr14:20439990-20440001 chr14:20439867-20439880 chr14:20439867-20439878 chr14:20439867-20439880 chr14:20439868-20439879
3	CEBPB	chr14:20439827-20439886	Hela-S3	cervix:	n/a	chr14:20439867-20439880 chr14:20439867-20439878 chr14:20439867-20439880 chr14:20439868-20439879
4	CEBPB	chr14:20439816-20439966	A549	lung:	n/a	chr14:20439867-20439880 chr14:20439867-20439878 chr14:20439867-20439880 chr14:20439868-20439879
5	CEBPB	chr14:20439856-20439879	HepG2	liver:	n/a	chr14:20439867-20439878 chr14:20439868-20439879
6	CEBPB	chr14:20439841-20439948	K562	blood:	n/a	chr14:20439867-20439880 chr14:20439867-20439878 chr14:20439867-20439880 chr14:20439868-20439879
7	CEBPB	chr14:20434386-20434443	K562	blood:	n/a	n/a
8	CEBPB	chr14:20434694-20434707	K562	blood:	n/a	n/a
9	CTCF	chr14:20438121-20438203	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr14:20436819-20436848	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr14:20462863-20462913	LNCaP	prostate:	n/a	n/a
12	CTCF	chr14:20443804-20443825	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr14:20436957-20437026	Lung_OC	lung:	n/a	n/a
14	CTCF	chr14:20455546-20455631	GM20000	blood:	n/a	n/a
15	CTCF	chr14:20451391-20451461	LNCaP	prostate:	n/a	n/a
16	CTCF	chr14:20444135-20444225	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:20428792-20428896	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr14:20461564-20461626	GM20000	blood:	n/a	n/a
19	CUX1	chr14:20466351-20466408	GM12878	blood:	n/a	n/a
20	E2F4	chr14:20450196-20450245	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr14:20442785-20442899	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr14:20450178-20450263	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr14:20450185-20450187	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr14:20450038-20450270	HepG2	liver:	n/a	n/a
25	KAP1	chr14:20450189-20450540	K562	blood:	n/a	n/a
26	MAFF	chr14:20466922-20467156	HepG2	liver:	n/a	n/a
27	MAFF	chr14:20466937-20467086	K562	blood:	n/a	n/a
28	MAFK	chr14:20440429-20440558	HepG2	liver:	n/a	chr14:20440456-20440472
29	MAFK	chr14:20466923-20467159	HepG2	liver:	n/a	n/a
30	MAFK	chr14:20440361-20440507	HepG2	liver:	n/a	chr14:20440456-20440472
31	MYC	chr14:20466605-20466751	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr14:20448802-20448903	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr14:20436413-20436433	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr14:20444015-20444275	HepG2	liver:	n/a	n/a
35	STAT3	chr14:20464668-20464818	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr14:20458986-20459012	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr14:20447044-20447195	MCF10A-Er-Src	breast:	n/a	n/a
38	TAL1	chr14:20445303-20445464	K562	blood:	n/a	chr14:20445386-20445404

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:20444164-20444214	NHBE	bronchial:	n/a
2	chr14:20444164-20444214	CMK	blood:	n/a
3	chr14:20444164-20444214	HEK293	kidney:	embryo
4	chr14:20444164-20444214	SKMC	muscle:	n/a
5	chr14:20444164-20444214	GM19239	blood:	n/a
6	chr14:20444164-20444214	MCF10A-Er-Src	breast:	n/a
7	chr14:20444164-20444214	Hepatocyte	liver:	n/a
8	chr14:20444164-20444214	SK-N-MC	brain:	n/a
9	chr14:20444164-20444214	GM06990	blood:	n/a
10	chr14:20444164-20444214	ECC-1	luminal epithelium:	n/a
11	chr14:20444164-20444214	NB4	blood:	n/a
12	chr14:20444164-20444214	NH-A	brain:	n/a
13	chr14:20444164-20444214	HIPEpiC	eye:	n/a
14	chr14:20444164-20444214	AG09319	gingival:	n/a
15	chr14:20444164-20444214	AG09309	skin:	n/a
16	chr14:20444164-20444214	AG04450	lung:	fetal
17	chr14:20444164-20444214	HAEpiC	amniotic membrane:	n/a
18	chr14:20444164-20444214	HEEpiC	esophagus:	n/a
19	chr14:20444164-20444214	K562	blood:	n/a
20	chr14:20444164-20444214	BE2_C	brain:	n/a
21	chr14:20444164-20444214	HL-60	blood:	n/a
22	chr14:20444164-20444214	HCT-116	colon:	n/a
23	chr14:20444164-20444214	Jurkat	blood:	n/a
24	chr14:20444164-20444214	AoSMC	blood vessel:	n/a
25	chr14:20444164-20444214	Caco-2	colon:	n/a
26	chr14:20444164-20444214	SK-N-SH	brain:	n/a
27	chr14:20444164-20444214	MCF-7	breast:	n/a
28	chr14:20444164-20444214	HCF	heart:	n/a
29	chr14:20444164-20444214	H1-hESC	embryonic stem cell:	embryo
30	chr14:20444164-20444214	PFSK-1	brain:	n/a
31	chr14:20444164-20444214	AG10803	skin:	n/a
32	chr14:20444164-20444214	HUVEC	blood vessel:	n/a
33	chr14:20444164-20444214	GM12892	blood:	n/a
34	chr14:20444164-20444214	NHDF-neo	bronchial:	n/a
35	chr14:20444164-20444214	HRPEpiC	eye:	n/a
36	chr14:20444164-20444214	RPTEC	kidney:	n/a
37	chr14:20444164-20444214	A549	lung:	n/a
38	chr14:20444164-20444214	SK-N-SH_RA	brain:	n/a
39	chr14:20444164-20444214	ProgFib	skin:	n/a
40	chr14:20444164-20444214	PANC-1	pancreas:	n/a
41	chr14:20444164-20444214	SAEC	small airway:	n/a
42	chr14:20444164-20444214	HMEC	breast:	n/a
43	chr14:20444164-20444214	BJ	skin:	n/a
44	chr14:20444164-20444214	U87	brain:	n/a
45	chr14:20444164-20444214	HCPEpiC	choroid plexus:	n/a
46	chr14:20444164-20444214	HNPCEpiC	eye:	n/a
47	chr14:20444164-20444214	HepG2	liver:	n/a
48	chr14:20444164-20444214	HRCEpiC	kidney:	n/a
49	chr14:20444164-20444214	ovcar-3	ovarian:	n/a
50	chr14:20444164-20444214	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20453392..20455779-chr14:20560575..20562246,2	K562	blood:

Variant related genes	Relation type
OR4K15	TF binding region
OR4Q2	TF binding region
OR4K15	CpG island
OR4Q2	CpG island
ENSG00000258641	chromatin interactions

Extended variants
information (count: 588 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:588 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567366637	chr14:20437813-20437814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12435361	chr14:20437827-20437828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180808148	chr14:20437854-20437855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28588959	chr14:20437864-20437865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546125232	chr14:20437870-20437871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564561741	chr14:20437873-20437874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6573022	chr14:20437889-20437890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543425878	chr14:20437890-20437891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183670307	chr14:20437894-20437895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6573023	chr14:20437901-20437902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541162717	chr14:20437904-20437905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6573024	chr14:20437924-20437925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551574738	chr14:20437934-20437935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8013452	chr14:20437981-20437982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188757819	chr14:20437982-20437983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548141379	chr14:20438005-20438006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6573027	chr14:20438012-20438013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567149957	chr14:20438029-20438030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181084243	chr14:20438033-20438034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546364840	chr14:20438045-20438046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35138096	chr14:20438073-20438074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566293815	chr14:20438077-20438078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs8013635	chr14:20438079-20438080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557894274	chr14:20438127-20438128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186128142	chr14:20438131-20438132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570287323	chr14:20438132-20438133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576335442	chr14:20438133-20438134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537298656	chr14:20438145-20438146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs8013673	chr14:20438149-20438150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs112393209	chr14:20438153-20438154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570192059	chr14:20438207-20438208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541547679	chr14:20438222-20438223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191541350	chr14:20438256-20438257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8009603	chr14:20438262-20438263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545234806	chr14:20438265-20438266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563427973	chr14:20438268-20438269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530875795	chr14:20438287-20438288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549000260	chr14:20438309-20438310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182575491	chr14:20438375-20438376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8022752	chr14:20438378-20438379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546544918	chr14:20438383-20438384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570961965	chr14:20438449-20438450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187098150	chr14:20438459-20438460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538353349	chr14:20438460-20438461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534447078	chr14:20438479-20438480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552665576	chr14:20438484-20438485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538304214	chr14:20438507-20438508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367844724	chr14:20438517-20438518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs8014326	chr14:20438524-20438525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569910299	chr14:20438550-20438551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20437800-20438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:20437800-20438200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr14:20438000-20438800	Enhancers	Dnd41	blood
4	chr14:20438200-20438600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:20438200-20441400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:20438600-20438800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr14:20438600-20438800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr14:20438800-20441400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:20438800-20441400	Weak transcription	Dnd41	blood
10	chr14:20440000-20440800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr14:20440200-20440400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:20440200-20440400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr14:20440200-20444000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:20440400-20441400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:20440600-20441600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:20440800-20441200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:20441200-20444200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:20441400-20441600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:20441400-20442200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:20441400-20443800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:20441400-20444200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:20441400-20444400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:20441400-20444400	Enhancers	Dnd41	blood
24	chr14:20441400-20444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr14:20441600-20443800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:20441800-20443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:20442200-20443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr14:20443000-20443200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:20443200-20443800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:20443800-20444000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:20444600-20445800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:20445800-20446000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:20448800-20449000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:20461200-20461600	Enhancers	Dnd41	blood
35	chr14:20461600-20462400	ZNF genes & repeats	Dnd41	blood

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