Variant report

Variant	nsv530639
Chromosome Location	chr14:37837079-37934746
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	chr14:37882908-37883266	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:37916975-37917561	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:37854210-37854747	HepG2	liver:	n/a	chr14:37854604-37854612
4	ATF1	chr14:37868829-37869057	K562	blood:	n/a	n/a
5	ATF1	chr14:37886466-37886666	K562	blood:	n/a	n/a
6	ATF3	chr14:37868759-37869025	K562	blood:	n/a	n/a
7	BHLHE40	chr14:37854614-37854788	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:37853351-37853473	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:37868853-37868951	A549	lung:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
10	CEBPB	chr14:37854470-37854783	HepG2	liver:	n/a	chr14:37854544-37854557
11	CEBPB	chr14:37880321-37880642	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr14:37912160-37912400	HepG2	liver:	n/a	chr14:37912263-37912274
13	CEBPB	chr14:37880341-37880584	A549	lung:	n/a	n/a
14	CEBPB	chr14:37868730-37869079	IMR90	lung:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
15	CEBPB	chr14:37862046-37862226	HepG2	liver:	n/a	n/a
16	CEBPB	chr14:37867076-37867263	K562	blood:	n/a	n/a
17	CEBPB	chr14:37854494-37854779	HepG2	liver:	n/a	chr14:37854544-37854557
18	CEBPB	chr14:37868731-37869083	K562	blood:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
19	CEBPB	chr14:37853244-37853329	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr14:37875340-37875664	Hela-S3	cervix:	n/a	chr14:37875492-37875505 chr14:37875492-37875503 chr14:37875494-37875505 chr14:37875492-37875505 chr14:37875397-37875408 chr14:37875494-37875505 chr14:37875492-37875505
21	CEBPB	chr14:37854439-37854809	HepG2	liver:	n/a	chr14:37854544-37854557
22	CEBPB	chr14:37854457-37854807	HepG2	liver:	n/a	chr14:37854544-37854557
23	CEBPB	chr14:37917852-37918170	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:37899136-37899190	HepG2	liver:	n/a	chr14:37899154-37899165
25	CEBPB	chr14:37868840-37868959	Hela-S3	cervix:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
26	CEBPB	chr14:37880328-37880646	IMR90	lung:	n/a	n/a
27	CEBPB	chr14:37880373-37880626	MCF-7	breast:	n/a	n/a
28	CEBPB	chr14:37894600-37894760	A549	lung:	n/a	n/a
29	CEBPB	chr14:37866985-37867271	HepG2	liver:	n/a	n/a
30	CEBPB	chr14:37880314-37880664	HepG2	liver:	n/a	n/a
31	CEBPB	chr14:37882872-37883206	HepG2	liver:	n/a	n/a
32	CEBPB	chr14:37882866-37883085	HepG2	liver:	n/a	n/a
33	CEBPB	chr14:37875324-37875645	HepG2	liver:	n/a	chr14:37875492-37875505 chr14:37875492-37875503 chr14:37875494-37875505 chr14:37875492-37875505 chr14:37875397-37875408 chr14:37875494-37875505 chr14:37875492-37875505
34	CEBPB	chr14:37920948-37921143	K562	blood:	n/a	n/a
35	CEBPB	chr14:37854529-37854750	A549	lung:	n/a	chr14:37854544-37854557
36	CEBPB	chr14:37867147-37867185	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr14:37854490-37854791	MCF-7	breast:	n/a	chr14:37854544-37854557
38	CEBPB	chr14:37881175-37881481	A549	lung:	n/a	chr14:37881178-37881189
39	CEBPB	chr14:37866973-37867184	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr14:37868753-37869067	HepG2	liver:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
41	CEBPB	chr14:37898173-37898522	MCF-7	breast:	n/a	n/a
42	CEBPB	chr14:37857277-37857321	HepG2	liver:	n/a	n/a
43	CEBPB	chr14:37894629-37894863	HepG2	liver:	n/a	n/a
44	CEBPB	chr14:37854485-37854803	K562	blood:	n/a	chr14:37854544-37854557
45	CEBPB	chr14:37862652-37862731	HepG2	liver:	n/a	chr14:37862683-37862694
46	CEBPB	chr14:37868713-37869086	K562	blood:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
47	CEBPB	chr14:37837419-37837687	HepG2	liver:	n/a	chr14:37837498-37837511 chr14:37837569-37837580 chr14:37837568-37837581
48	CEBPB	chr14:37837475-37837651	A549	lung:	n/a	chr14:37837498-37837511 chr14:37837569-37837580 chr14:37837568-37837581
49	CEBPB	chr14:37881059-37881505	HepG2	liver:	n/a	chr14:37881178-37881189
50	CEBPB	chr14:37875362-37875614	A549	lung:	n/a	chr14:37875492-37875505 chr14:37875492-37875503 chr14:37875494-37875505 chr14:37875492-37875505 chr14:37875397-37875408 chr14:37875494-37875505 chr14:37875492-37875505

No.	Distal block	Cell Line	Cell type
1	chr14:37922172..37923880-chr14:37926758..37928419,2	MCF-7	breast:
2	chr14:37789885..37792148-chr14:37882206..37884543,2	MCF-7	breast:
3	chr14:37905530..37906254-chr14:38016253..38017008,2	MCF-7	breast:
4	chr14:37904725..37909149-chr14:38061107..38065274,9	MCF-7	breast:
5	chr14:37922237..37924533-chr14:37931027..37932952,2	MCF-7	breast:
6	chr14:37845196..37847206-chr14:37851691..37853679,2	K562	blood:
7	chr14:37868487..37870431-chr14:37872042..37874988,2	K562	blood:
8	chr14:37897535..37899895-chr14:38063797..38065302,2	MCF-7	breast:
9	chr14:37840146..37842839-chr14:37843811..37846339,2	K562	blood:
10	chr14:37919150..37921478-chr14:38062353..38064686,2	MCF-7	breast:
11	chr14:37884990..37886932-chr14:37888404..37890275,2	K562	blood:
12	chr14:37922172..37923880-chr14:37926758..37928419,2	MCF-7	breast:
13	chr14:37922237..37924533-chr14:37931027..37932952,2	MCF-7	breast:
14	chr14:37858877..37861783-chr14:37988865..37991123,2	MCF-7	breast:
15	chr14:37889149..37891351-chr14:38062357..38065324,2	MCF-7	breast:
16	chr14:37845196..37847206-chr14:37851691..37853679,2	K562	blood:
17	chr14:37881541..37884067-chr14:38063012..38064941,2	MCF-7	breast:
18	chr14:37914831..37917471-chr14:37919271..37922132,2	MCF-7	breast:
19	chr14:37840146..37842839-chr14:37843811..37846339,2	K562	blood:
20	chr14:37932975..37935866-chr14:38063340..38065304,3	MCF-7	breast:
21	chr14:37850388..37852120-chr14:38064172..38065752,2	MCF-7	breast:
22	chr14:37924566..37927073-chr14:38060566..38062784,2	MCF-7	breast:
23	chr14:37923519..37926055-chr14:37998366..38001362,2	MCF-7	breast:
24	chr14:37923826..37925404-chr14:38041177..38044020,2	MCF-7	breast:
25	chr14:37914831..37917471-chr14:37919271..37922132,2	MCF-7	breast:
26	chr14:37868487..37870431-chr14:37872042..37874988,2	K562	blood:
27	chr14:37868011..37870667-chr14:37877895..37880422,2	K562	blood:
28	chr14:37899686..37902705-chr14:38064003..38066607,3	MCF-7	breast:
29	chr14:37868199..37870734-chr14:38056121..38058989,2	MCF-7	breast:
30	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
31	chr14:37868011..37870667-chr14:37877895..37880422,2	K562	blood:
32	chr14:37895105..37897353-chr14:37902428..37905218,2	MCF-7	breast:
33	chr14:37884990..37886932-chr14:37888404..37890275,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTC6-2	chr14:37869005-37871105	NONHSAT036460
2	lnc-FOXA1-4	chr14:37853626-37855696	NONHSAT036459

Variant related genes	Relation type
RNU6-886P	TF binding region
ENSG00000129514	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000207046	chromatin interactions

Extended variants
information (count: 3269 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3269 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552828250	chr14:37837113-37837114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561643317	chr14:37837137-37837138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201492627	chr14:37837276-37837277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572824466	chr14:37837429-37837430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117955127	chr14:37837445-37837446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560958090	chr14:37837449-37837450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117504414	chr14:37837452-37837453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543887242	chr14:37837469-37837470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191657828	chr14:37837478-37837479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532715519	chr14:37837483-37837484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369462808	chr14:37837557-37837558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61097588	chr14:37837559-37837560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs5807949	chr14:37837561-37837562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3062673	chr14:37837563-37837564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552823900	chr14:37837618-37837619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537782997	chr14:37837631-37837632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184096058	chr14:37837645-37837646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561027947	chr14:37837664-37837665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552673382	chr14:37837816-37837817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs719136	chr14:37837825-37837826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146202878	chr14:37837876-37837877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187262779	chr14:37837918-37837919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139104845	chr14:37837924-37837925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571079883	chr14:37837933-37837934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376150708	chr14:37837963-37837964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539220052	chr14:37838006-37838007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552767048	chr14:37838060-37838061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28437521	chr14:37838063-37838064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115960982	chr14:37838117-37838118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555280103	chr14:37838121-37838122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs719135	chr14:37838214-37838215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553300359	chr14:37838241-37838242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149866094	chr14:37838437-37838438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577282028	chr14:37838444-37838445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574873781	chr14:37838454-37838455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546378390	chr14:37838483-37838484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373180983	chr14:37838492-37838493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559991515	chr14:37838535-37838536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184689403	chr14:37838542-37838543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556918799	chr14:37838585-37838586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542532181	chr14:37838594-37838595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144360336	chr14:37838604-37838605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397773455	chr14:37838614-37838615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76234761	chr14:37838678-37838679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59849867	chr14:37838693-37838694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150750462	chr14:37838728-37838729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201332192	chr14:37838770-37838771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139003723	chr14:37838786-37838787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149454012	chr14:37838814-37838815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376570442	chr14:37838815-37838816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37825600-37840200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:37831000-37852400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:37833400-37839600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:37833400-37841800	Weak transcription	Left Ventricle	heart
5	chr14:37833400-37844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:37833400-37845600	Weak transcription	Esophagus	oesophagus
7	chr14:37833400-37848000	Weak transcription	Aorta	Aorta
8	chr14:37833400-37867000	Weak transcription	Ovary	ovary
9	chr14:37833600-37843800	Weak transcription	Pancreas	Pancrea
10	chr14:37833600-37846200	Weak transcription	Fetal Intestine Small	intestine
11	chr14:37833600-37853200	Weak transcription	Fetal Lung	lung
12	chr14:37833800-37838600	Weak transcription	A549	lung
13	chr14:37835000-37851600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:37837600-37840000	Weak transcription	NHEK	skin
15	chr14:37838600-37839000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr14:37838600-37839000	Enhancers	A549	lung
17	chr14:37838600-37839000	Enhancers	HepG2	liver
18	chr14:37838800-37839000	Enhancers	Stomach Mucosa	stomach
19	chr14:37845400-37860400	Weak transcription	HUVEC	blood vessel
20	chr14:37846200-37846400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:37846200-37846600	Enhancers	Fetal Intestine Small	intestine
22	chr14:37848000-37848400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:37848000-37848400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:37849200-37850600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:37850600-37854600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:37853200-37853400	Enhancers	Fetal Lung	lung
27	chr14:37854200-37854400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr14:37854200-37854600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:37854200-37855200	Enhancers	HepG2	liver
30	chr14:37854400-37854600	Active TSS	A549	lung
31	chr14:37854400-37854800	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:37854400-37855000	Enhancers	Liver	Liver
33	chr14:37854600-37854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:37854600-37854800	Flanking Active TSS	A549	lung
35	chr14:37854800-37855200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:37859400-37878600	Weak transcription	Aorta	Aorta
37	chr14:37862400-37864800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:37863400-37865600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:37866000-37866400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:37867000-37867200	ZNF genes & repeats	Fetal Stomach	stomach
41	chr14:37867000-37867400	Enhancers	Esophagus	oesophagus
42	chr14:37867000-37868000	Strong transcription	Ovary	ovary
43	chr14:37867200-37867800	Strong transcription	Fetal Stomach	stomach
44	chr14:37867400-37867800	ZNF genes & repeats	Esophagus	oesophagus
45	chr14:37867600-37869000	Weak transcription	Psoas Muscle	Psoas
46	chr14:37867800-37877800	Weak transcription	Fetal Stomach	stomach
47	chr14:37867800-37898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:37868000-37877600	Weak transcription	Ovary	ovary
49	chr14:37868400-37869200	Enhancers	Fetal Intestine Small	intestine
50	chr14:37868800-37869200	Enhancers	Pancreatic Islets	Pancreatic Islet

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