Variant report

Variant	nsv1043093
Chromosome Location	chr14:37849742-37928753
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	chr14:37916975-37917561	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:37854210-37854747	HepG2	liver:	n/a	chr14:37854604-37854612
3	ARID3A	chr14:37882908-37883266	HepG2	liver:	n/a	n/a
4	ATF1	chr14:37886466-37886666	K562	blood:	n/a	n/a
5	ATF1	chr14:37868829-37869057	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	chr14:37875362-37875614	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
9	CEBPB	chr14:37854439-37854809	HepG2	liver:	n/a	chr14:37854544-37854557
10	CEBPB	chr14:37880321-37880642	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:37853351-37853473	HepG2	liver:	n/a	n/a
12	CEBPB	chr14:37857277-37857321	HepG2	liver:	n/a	n/a
13	CEBPB	chr14:37880373-37880626	MCF-7	breast:	n/a	n/a
14	CEBPB	chr14:37868853-37868951	A549	lung:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
15	CEBPB	chr14:37867076-37867263	K562	blood:	n/a	n/a
16	CEBPB	chr14:37854494-37854779	HepG2	liver:	n/a	chr14:37854544-37854557
17	CEBPB	chr14:37880328-37880646	IMR90	lung:	n/a	n/a
18	CEBPB	chr14:37862046-37862226	HepG2	liver:	n/a	n/a
19	CEBPB	chr14:37854470-37854783	HepG2	liver:	n/a	chr14:37854544-37854557
20	CEBPB	chr14:37866973-37867184	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr14:37867147-37867185	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr14:37880314-37880664	HepG2	liver:	n/a	n/a
23	CEBPB	chr14:37899136-37899190	HepG2	liver:	n/a	chr14:37899154-37899165
24	CEBPB	chr14:37868731-37869083	K562	blood:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
25	CEBPB	chr14:37868713-37869086	K562	blood:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
26	CEBPB	chr14:37894600-37894760	A549	lung:	n/a	n/a
27	CEBPB	chr14:37882866-37883085	HepG2	liver:	n/a	n/a
28	CEBPB	chr14:37854529-37854750	A549	lung:	n/a	chr14:37854544-37854557
29	CEBPB	chr14:37854490-37854791	MCF-7	breast:	n/a	chr14:37854544-37854557
30	CEBPB	chr14:37881175-37881481	A549	lung:	n/a	chr14:37881178-37881189
31	CEBPB	chr14:37880341-37880584	A549	lung:	n/a	n/a
32	CEBPB	chr14:37912160-37912400	HepG2	liver:	n/a	chr14:37912263-37912274
33	CEBPB	chr14:37868840-37868959	Hela-S3	cervix:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
34	CEBPB	chr14:37917852-37918170	HepG2	liver:	n/a	n/a
35	CEBPB	chr14:37862652-37862731	HepG2	liver:	n/a	chr14:37862683-37862694
36	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
37	CEBPB	chr14:37854485-37854803	K562	blood:	n/a	chr14:37854544-37854557
38	CEBPB	chr14:37853244-37853329	H1-hESC	embryonic stem cell:	n/a	n/a
39	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
40	CEBPB	chr14:37868753-37869067	HepG2	liver:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
41	CEBPB	chr14:37874165-37874488	HepG2	liver:	n/a	chr14:37874314-37874325
42	CEBPB	chr14:37868730-37869079	IMR90	lung:	n/a	chr14:37868895-37868906 chr14:37868894-37868907
43	CEBPB	chr14:37894629-37894863	HepG2	liver:	n/a	n/a
44	CEBPB	chr14:37866985-37867271	HepG2	liver:	n/a	n/a
45	CEBPB	chr14:37898173-37898522	MCF-7	breast:	n/a	n/a
46	CEBPB	chr14:37920948-37921143	K562	blood:	n/a	n/a
47	CEBPB	chr14:37881059-37881505	HepG2	liver:	n/a	chr14:37881178-37881189
48	CEBPB	chr14:37882872-37883206	HepG2	liver:	n/a	n/a
49	CEBPB	chr14:37854457-37854807	HepG2	liver:	n/a	chr14:37854544-37854557
50	CTCF	chr14:37923437-37923452	ProgFib	skin:	n/a	n/a

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

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
ENSG00000207046	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000129514	chromatin interactions

Extended variants
information (count: 2646 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2646 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10483490	chr14:37849742-37849743	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556259346	chr14:37849758-37849759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576226819	chr14:37849822-37849823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544500227	chr14:37849824-37849825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562794582	chr14:37849899-37849900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138975768	chr14:37849903-37849904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558792190	chr14:37849905-37849906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572185230	chr14:37849906-37849907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566559954	chr14:37849970-37849971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117704155	chr14:37850007-37850008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561064650	chr14:37850052-37850053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573945989	chr14:37850078-37850079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542637377	chr14:37850178-37850179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562599195	chr14:37850193-37850194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2064669	chr14:37850212-37850213	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181984086	chr14:37850256-37850257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565474019	chr14:37850261-37850262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185170189	chr14:37850275-37850276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117279737	chr14:37850286-37850287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548053535	chr14:37850299-37850300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567878860	chr14:37850328-37850329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189764246	chr14:37850344-37850345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549804523	chr14:37850347-37850348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12893503	chr14:37850363-37850364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs538725690	chr14:37850370-37850371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368772471	chr14:37850402-37850403	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs527760344	chr14:37850410-37850411	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73265941	chr14:37850432-37850433	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs182761966	chr14:37850444-37850445	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373957459	chr14:37850458-37850459	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs534535647	chr14:37850480-37850481	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs55743609	chr14:37850499-37850500	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs34598137	chr14:37850575-37850576	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs140534363	chr14:37850586-37850587	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186498035	chr14:37850619-37850620	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542573493	chr14:37850664-37850665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377557445	chr14:37850679-37850680	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs538880664	chr14:37850686-37850687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs576077102	chr14:37850734-37850735	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544018472	chr14:37850738-37850739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs1955956	chr14:37850755-37850756	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191222377	chr14:37850772-37850773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369706169	chr14:37850774-37850775	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs77354484	chr14:37850804-37850805	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183484961	chr14:37850846-37850847	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs541286916	chr14:37850874-37850875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112044349	chr14:37850875-37850876	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530424866	chr14:37850889-37850890	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138416744	chr14:37850891-37850892	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs78963263	chr14:37850913-37850914	Weak transcription	Chromatin interactive region	2 gene(s)	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:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37831000-37852400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:37833400-37867000	Weak transcription	Ovary	ovary
3	chr14:37833600-37853200	Weak transcription	Fetal Lung	lung
4	chr14:37835000-37851600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:37845400-37860400	Weak transcription	HUVEC	blood vessel
6	chr14:37849200-37850600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:37850600-37854600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:37853200-37853400	Enhancers	Fetal Lung	lung
9	chr14:37854200-37854400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:37854200-37854600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:37854200-37855200	Enhancers	HepG2	liver
12	chr14:37854400-37854600	Active TSS	A549	lung
13	chr14:37854400-37854800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:37854400-37855000	Enhancers	Liver	Liver
15	chr14:37854600-37854800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:37854600-37854800	Flanking Active TSS	A549	lung
17	chr14:37854800-37855200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr14:37859400-37878600	Weak transcription	Aorta	Aorta
19	chr14:37862400-37864800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:37863400-37865600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:37866000-37866400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:37867000-37867200	ZNF genes & repeats	Fetal Stomach	stomach
23	chr14:37867000-37867400	Enhancers	Esophagus	oesophagus
24	chr14:37867000-37868000	Strong transcription	Ovary	ovary
25	chr14:37867200-37867800	Strong transcription	Fetal Stomach	stomach
26	chr14:37867400-37867800	ZNF genes & repeats	Esophagus	oesophagus
27	chr14:37867600-37869000	Weak transcription	Psoas Muscle	Psoas
28	chr14:37867800-37877800	Weak transcription	Fetal Stomach	stomach
29	chr14:37867800-37898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:37868000-37877600	Weak transcription	Ovary	ovary
31	chr14:37868400-37869200	Enhancers	Fetal Intestine Small	intestine
32	chr14:37868800-37869200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr14:37868800-37869200	Enhancers	K562	blood
34	chr14:37869000-37869200	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr14:37869000-37869400	Enhancers	Fetal Intestine Large	intestine
36	chr14:37869200-37871600	Weak transcription	Fetal Intestine Small	intestine
37	chr14:37869800-37870200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:37871600-37872200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:37871600-37872400	Enhancers	Fetal Intestine Small	intestine
40	chr14:37872000-37872200	Enhancers	Gastric	stomach
41	chr14:37872000-37872400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:37872200-37875400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:37872400-37872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:37872400-37882800	Weak transcription	Fetal Intestine Small	intestine
45	chr14:37872600-37873200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:37872800-37873000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr14:37873000-37874600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:37873000-37874600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:37873200-37873600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:37873200-37874400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

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