Variant report

Variant	nsv974310
Chromosome Location	chr14:20636587-20643351
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	ATF3	chr14:20638032-20638356	K562	blood:	n/a	n/a
2	CEBPB	chr14:20638951-20639274	A549	lung:	n/a	chr14:20639103-20639114
3	CEBPB	chr14:20643233-20643506	K562	blood:	n/a	chr14:20643311-20643324
4	CEBPB	chr14:20638926-20639276	K562	blood:	n/a	chr14:20639103-20639114
5	CEBPB	chr14:20639049-20639270	IMR90	lung:	n/a	chr14:20639103-20639114
6	CEBPB	chr14:20638948-20639275	HepG2	liver:	n/a	chr14:20639103-20639114
7	CTCF	chr14:20639834-20639897	GM10266	blood:	n/a	n/a
8	CTCF	chr14:20637962-20637979	Kidney_OC	kidney:	n/a	n/a
9	E2F4	chr14:20638268-20638282	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr14:20637962-20638538	SK-N-SH	brain:	n/a	n/a
11	FOS	chr14:20638036-20638405	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:20638037-20638405	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:20638029-20638399	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:20638011-20638390	MCF10A-Er-Src	breast:	n/a	n/a
15	FOSL1	chr14:20638136-20638250	K562	blood:	n/a	chr14:20638209-20638220
16	FOSL2	chr14:20638071-20638495	SK-N-SH	brain:	n/a	n/a
17	FOXA2	chr14:20637607-20637903	A549	lung:	n/a	n/a
18	FOXA2	chr14:20637581-20637916	A549	lung:	n/a	n/a
19	GATA1	chr14:20643248-20643884	PBDE	blood:	n/a	chr14:20643709-20643720
20	GATA3	chr14:20637644-20638453	SK-N-SH	brain:	n/a	n/a
21	GATA3	chr14:20637599-20638551	SK-N-SH	brain:	n/a	n/a
22	JUN	chr14:20638141-20638279	HepG2	liver:	n/a	n/a
23	JUN	chr14:20638091-20638338	K562	blood:	n/a	n/a
24	JUN	chr14:20638054-20638365	K562	blood:	n/a	n/a
25	JUND	chr14:20638098-20638259	HepG2	liver:	n/a	chr14:20638209-20638220
26	JUND	chr14:20638090-20638377	HepG2	liver:	n/a	chr14:20638209-20638220
27	JUND	chr14:20638049-20638407	K562	blood:	n/a	chr14:20638209-20638220
28	JUND	chr14:20638047-20638526	SK-N-SH	brain:	n/a	chr14:20638209-20638220
29	JUND	chr14:20637875-20638613	SK-N-SH	brain:	n/a	chr14:20638209-20638220
30	JUND	chr14:20638034-20638359	SK-N-SH	brain:	n/a	chr14:20638209-20638220
31	KAP1	chr14:20643070-20643308	K562	blood:	n/a	n/a
32	MAX	chr14:20638039-20638334	K562	blood:	n/a	n/a
33	MAX	chr14:20638112-20638398	SK-N-SH	brain:	n/a	n/a
34	MAX	chr14:20638060-20638413	SK-N-SH	brain:	n/a	n/a
35	MYC	chr14:20638067-20638350	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr14:20638037-20638332	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr14:20637880-20638534	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr14:20638061-20638423	SK-N-SH	brain:	n/a	n/a
39	PBX3	chr14:20638099-20638451	SK-N-SH	brain:	n/a	n/a
40	PBX3	chr14:20638060-20638440	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr14:20638069-20638369	SK-N-SH	brain:	n/a	n/a
42	RCOR1	chr14:20638154-20638155	K562	blood:	n/a	n/a
43	STAT3	chr14:20638111-20638313	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr14:20638236-20638253	MCF10A-Er-Src	breast:	n/a	n/a
45	TCF12	chr14:20637952-20638515	SK-N-SH	brain:	n/a	n/a
46	TCF12	chr14:20638041-20638555	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:20642540..20645135-chr14:20796578..20798741,2	K562	blood:

Variant related genes	Relation type
OR11G1P	TF binding region
ENSG00000259095	TF binding region
ENSG00000100814	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145140414	chr14:20638012-20638013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557652857	chr14:20638034-20638035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148377201	chr14:20638076-20638077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200752850	chr14:20638103-20638104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543194034	chr14:20638105-20638106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141400220	chr14:20638113-20638114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573396298	chr14:20638129-20638130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540716935	chr14:20638136-20638137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs118133144	chr14:20638141-20638142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150407009	chr14:20638185-20638186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186319427	chr14:20638233-20638234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138169235	chr14:20638305-20638306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529948345	chr14:20638324-20638325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368100616	chr14:20638340-20638341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566657994	chr14:20638348-20638349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374481571	chr14:20638387-20638388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527522736	chr14:20638469-20638470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573059201	chr14:20638503-20638504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578009568	chr14:20638531-20638532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149583650	chr14:20638537-20638538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116316367	chr14:20638558-20638559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549804517	chr14:20638569-20638570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147285605	chr14:20638576-20638577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536934023	chr14:20638581-20638582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555008254	chr14:20638603-20638604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573361112	chr14:20638687-20638688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188369752	chr14:20638767-20638768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558983012	chr14:20638776-20638777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576929934	chr14:20638874-20638875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367739615	chr14:20638884-20638885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545218868	chr14:20638964-20638965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138820652	chr14:20638969-20638970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531831109	chr14:20638991-20638992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10047837	chr14:20639015-20639016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs542086638	chr14:20639040-20639041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201710940	chr14:20639060-20639061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143617564	chr14:20639061-20639062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58793756	chr14:20639063-20639064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527445974	chr14:20639084-20639085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552109653	chr14:20639095-20639096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564123448	chr14:20639109-20639110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57605860	chr14:20639119-20639120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376192798	chr14:20639140-20639141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549939379	chr14:20639182-20639183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568058238	chr14:20639196-20639197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8015787	chr14:20639210-20639211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548832151	chr14:20639245-20639246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180680070	chr14:20639258-20639259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186596632	chr14:20639325-20639326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558897073	chr14:20639349-20639350	Weak transcription	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20638000-20638800	Enhancers	K562	blood
2	chr14:20638400-20638600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:20638400-20638800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:20638800-20643000	Weak transcription	K562	blood
5	chr14:20643000-20644000	Enhancers	K562	blood

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