Variant report

Variant	nsv1240
Chromosome Location	chr14:35599027-35625361
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	ARID3A	chr14:35609838-35610282	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:35615869-35616033	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:35613218-35613555	HepG2	liver:	n/a	n/a
4	BRCA1	chr14:35613335-35613393	GM12878	blood:	n/a	n/a
5	CBX3	chr14:35602269-35602685	K562	blood:	n/a	n/a
6	CBX3	chr14:35602360-35602546	K562	blood:	n/a	n/a
7	CEBPB	chr14:35625280-35625622	IMR90	lung:	n/a	n/a
8	CEBPB	chr14:35605476-35605702	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:35613295-35613593	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:35615956-35615976	IMR90	lung:	n/a	n/a
11	CEBPB	chr14:35601915-35601965	HepG2	liver:	n/a	chr14:35601943-35601954
12	CEBPB	chr14:35619064-35619239	HepG2	liver:	n/a	chr14:35619155-35619166
13	CEBPB	chr14:35612292-35612467	HepG2	liver:	n/a	chr14:35612414-35612425
14	CEBPB	chr14:35612279-35612564	HepG2	liver:	n/a	chr14:35612414-35612425
15	CHD2	chr14:35613402-35613558	GM12878	blood:	n/a	n/a
16	CTCF	chr14:35610040-35610190	WI-38	lung:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
17	CTCF	chr14:35609897-35610364	K562	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
18	CTCF	chr14:35609963-35610210	HepG2	liver:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
19	CTCF	chr14:35609280-35609430	AG10803	skin:	n/a	n/a
20	CTCF	chr14:35610040-35610190	GM12874	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
21	CTCF	chr14:35610040-35610190	HCPEpiC	choroid plexus:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
22	CTCF	chr14:35610040-35610190	HPAF	blood vessel:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
23	CTCF	chr14:35610020-35610170	HVMF	connective:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
24	CTCF	chr14:35610040-35610190	HCFaa	heart:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
25	CTCF	chr14:35610000-35610150	GM12873	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
26	CTCF	chr14:35602820-35602970	HepG2	liver:	n/a	n/a
27	CTCF	chr14:35610060-35610210	HMEC	breast:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
28	CTCF	chr14:35609872-35610234	MCF-7	breast:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
29	CTCF	chr14:35610029-35610233	Lung_OC	lung:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
30	CTCF	chr14:35609900-35610050	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr14:35610082-35610179	LNCaP	prostate:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
32	CTCF	chr14:35603453-35603537	GM12891	blood:	n/a	n/a
33	CTCF	chr14:35599534-35599538	LNCaP	prostate:	n/a	n/a
34	CTCF	chr14:35610042-35610185	SK-N-SH_RA	brain:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
35	CTCF	chr14:35602880-35603030	RPTEC	kidney:	n/a	n/a
36	CTCF	chr14:35609735-35610610	SK-N-SH	brain:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
37	CTCF	chr14:35610040-35610176	LNCaP	prostate:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
38	CTCF	chr14:35603280-35603430	HMEC	breast:	n/a	n/a
39	CTCF	chr14:35610029-35610031	LNCaP	prostate:	n/a	n/a
40	CTCF	chr14:35610040-35610190	HPF	lung:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
41	CTCF	chr14:35610040-35610190	RPTEC	kidney:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
42	CTCF	chr14:35610060-35610210	GM12864	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
43	CTCF	chr14:35603410-35603544	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:35610060-35610210	HMF	breast:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
45	CTCF	chr14:35602820-35602970	A549	lung:	n/a	n/a
46	CTCF	chr14:35610031-35610194	GM12878	blood:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
47	CTCF	chr14:35603400-35603550	HVMF	connective:	n/a	n/a
48	CTCF	chr14:35610004-35610248	Medullo	brain:	n/a	chr14:35610106-35610124 chr14:35610108-35610129
49	CTCF	chr14:35603300-35603450	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr14:35610020-35610170	AG09319	gingival:	n/a	chr14:35610106-35610124 chr14:35610108-35610129

No.	Distal block	Cell Line	Cell type
1	chr14:35509776..35510382-chr14:35602542..35603513,2	MCF-7	breast:
2	chr14:35614979..35617041-chr14:35619996..35622805,3	K562	blood:
3	chr14:35591519..35595247-chr14:35614813..35617284,3	MCF-7	breast:
4	chr14:35610882..35612765-chr14:35874078..35876845,2	MCF-7	breast:
5	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
6	chr14:35618961..35620951-chr14:35872636..35874969,2	K562	blood:
7	chr14:35590482..35592799-chr14:35601392..35603277,2	MCF-7	breast:
8	chr14:35604060..35606513-chr14:35608346..35611320,2	K562	blood:
9	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
10	chr14:35625114..35628050-chr14:35869275..35871381,2	MCF-7	breast:
11	chr14:35622588..35627460-chr14:35872526..35876521,6	MCF-7	breast:
12	chr14:35605217..35606991-chr14:35607370..35609971,2	MCF-7	breast:
13	chr14:35607146..35612253-chr14:35870483..35876264,6	MCF-7	breast:
14	chr14:35604150..35607008-chr14:35873146..35874686,2	MCF-7	breast:
15	chr14:35593860..35596443-chr14:35605517..35607732,2	MCF-7	breast:
16	chr14:35610009..35610550-chr14:36156270..36157192,2	K562	blood:
17	chr14:35614979..35617041-chr14:35619996..35622805,3	K562	blood:
18	chr14:35622836..35624862-chr14:35627590..35631684,4	MCF-7	breast:
19	chr14:35590804..35592605-chr14:35605460..35607939,2	K562	blood:
20	chr14:35625181..35627591-chr14:35627623..35631343,4	MCF-7	breast:
21	chr14:35624804..35627276-chr14:35631634..35634106,2	K562	blood:
22	chr14:35616325..35618402-chr14:35627328..35629037,2	MCF-7	breast:
23	chr14:35617849..35620759-chr14:35622945..35624771,2	K562	blood:
24	chr14:35603102..35605461-chr14:35881286..35882903,2	MCF-7	breast:
25	chr14:35609923..35610592-chr14:35882131..35883118,2	K562	blood:
26	chr14:35617849..35620759-chr14:35622945..35624771,2	K562	blood:
27	chr14:35591208..35595473-chr14:35600554..35604133,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R3C-1	chr14:35613227-35613686	NONHSAT036366

Variant related genes	Relation type
ENSG00000241052	TF binding region
ENSG00000259090	chromatin interactions
ENSG00000092020	chromatin interactions
ENSG00000100890	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000258790	chromatin interactions

Extended variants
information (count: 1021 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1021 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372849155	chr14:35599083-35599084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181660089	chr14:35599126-35599127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532520505	chr14:35599150-35599151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539854815	chr14:35599170-35599171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367636341	chr14:35599236-35599237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199514957	chr14:35599245-35599246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58417239	chr14:35599246-35599247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553672733	chr14:35599277-35599278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186865516	chr14:35599393-35599394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200843997	chr14:35599397-35599398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191502402	chr14:35599432-35599433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546197238	chr14:35599473-35599474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555723389	chr14:35599490-35599491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574471490	chr14:35599508-35599509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552299530	chr14:35599518-35599519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35861223	chr14:35599593-35599594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397815654	chr14:35599594-35599595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543066977	chr14:35599607-35599608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116924346	chr14:35599608-35599609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs60080616	chr14:35599617-35599618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532012785	chr14:35599649-35599650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111827848	chr14:35599652-35599653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545369969	chr14:35599660-35599661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76753457	chr14:35599668-35599669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58327846	chr14:35599691-35599692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559618712	chr14:35599699-35599700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78988495	chr14:35599701-35599702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528338181	chr14:35599703-35599704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181554650	chr14:35599710-35599711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145202286	chr14:35599726-35599727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530725129	chr14:35599766-35599767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551131822	chr14:35599788-35599789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570938553	chr14:35599822-35599823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538827500	chr14:35599833-35599834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554044715	chr14:35599851-35599852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569360081	chr14:35599909-35599910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147621284	chr14:35599910-35599911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140770855	chr14:35599919-35599920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs8014091	chr14:35599923-35599924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs575788179	chr14:35599938-35599939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186331572	chr14:35599942-35599943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113361166	chr14:35599947-35599948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556664163	chr14:35600000-35600001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11621710	chr14:35600022-35600023	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs142356769	chr14:35600055-35600056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114660463	chr14:35600137-35600138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573093387	chr14:35600143-35600144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191033636	chr14:35600144-35600145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12883128	chr14:35600146-35600147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535831951	chr14:35600151-35600152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35592200-35600000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:35592400-35603000	Weak transcription	Ovary	ovary
3	chr14:35592600-35599800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr14:35592600-35602800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:35592600-35602800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:35592600-35602800	Weak transcription	Spleen	Spleen
7	chr14:35592600-35603000	Weak transcription	Esophagus	oesophagus
8	chr14:35592600-35603000	Weak transcription	Gastric	stomach
9	chr14:35592600-35603200	Weak transcription	Left Ventricle	heart
10	chr14:35592600-35603200	Weak transcription	Pancreas	Pancrea
11	chr14:35592600-35603400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:35592600-35625200	Weak transcription	Small Intestine	intestine
13	chr14:35592800-35603200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:35592800-35611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:35593000-35601000	Weak transcription	Psoas Muscle	Psoas
16	chr14:35593000-35601400	Weak transcription	Brain Germinal Matrix	brain
17	chr14:35593000-35601400	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:35593000-35602800	Weak transcription	Adipose Nuclei	Adipose
19	chr14:35593000-35602800	Weak transcription	Placenta	Placenta
20	chr14:35593000-35602800	Weak transcription	Lung	lung
21	chr14:35593000-35602800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr14:35593000-35603400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:35593000-35603400	Weak transcription	Right Atrium	heart
24	chr14:35593000-35603800	Weak transcription	Brain Anterior Caudate	brain
25	chr14:35593000-35603800	Weak transcription	Right Ventricle	heart
26	chr14:35593000-35605200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:35593000-35610200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:35593000-35613400	Weak transcription	Stomach Mucosa	stomach
29	chr14:35593000-35638200	Weak transcription	Fetal Brain Male	brain
30	chr14:35593000-35660400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:35593200-35599200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:35593200-35599200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:35593200-35599600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:35593200-35600200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:35593200-35601600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:35593200-35601600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:35593200-35602400	Weak transcription	Fetal Brain Female	brain
38	chr14:35593200-35602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:35593200-35602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:35593200-35602800	Weak transcription	Aorta	Aorta
41	chr14:35593200-35602800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:35593200-35602800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:35593200-35603000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:35593200-35603000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:35593200-35603000	Weak transcription	NHLF	lung
46	chr14:35593200-35603400	Weak transcription	Brain Angular Gyrus	brain
47	chr14:35593200-35603400	Weak transcription	Brain Hippocampus Middle	brain
48	chr14:35593200-35603800	Weak transcription	Fetal Heart	heart
49	chr14:35593200-35604000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:35593200-35625200	Weak transcription	NH-A	brain

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