Variant report

Variant	nsv1054312
Chromosome Location	chr14:39115713-39305911
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	chr14:39191075-39191411	HepG2	liver:	n/a	n/a
2	BACH1	chr14:39193066-39193072	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr14:39247661-39247666	GM12878	blood:	n/a	n/a
4	CEBPB	chr14:39128420-39128494	Hela-S3	cervix:	n/a	chr14:39128477-39128488
5	CEBPB	chr14:39261058-39261258	HepG2	liver:	n/a	chr14:39261104-39261117 chr14:39261105-39261116
6	CEBPB	chr14:39228767-39228863	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:39258136-39258446	IMR90	lung:	n/a	chr14:39258283-39258294
8	CEBPB	chr14:39176051-39176254	HepG2	liver:	n/a	chr14:39176157-39176168 chr14:39176157-39176170
9	CEBPB	chr14:39260262-39260316	A549	lung:	n/a	n/a
10	CEBPB	chr14:39257566-39257629	HepG2	liver:	n/a	n/a
11	CEBPB	chr14:39180257-39180308	HepG2	liver:	n/a	chr14:39180263-39180274
12	CEBPB	chr14:39258148-39258411	K562	blood:	n/a	chr14:39258283-39258294
13	CEBPB	chr14:39128315-39128550	HepG2	liver:	n/a	chr14:39128477-39128488
14	CEBPB	chr14:39258149-39258462	HepG2	liver:	n/a	chr14:39258283-39258294
15	CEBPB	chr14:39147106-39147430	HepG2	liver:	n/a	chr14:39147254-39147265 chr14:39147253-39147266 chr14:39147255-39147264 chr14:39147253-39147264
16	CEBPB	chr14:39260985-39261342	H1-hESC	embryonic stem cell:	n/a	chr14:39261104-39261117 chr14:39261105-39261116
17	CEBPB	chr14:39171495-39171734	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:39259898-39259942	HepG2	liver:	n/a	chr14:39259913-39259926
19	CHD2	chr14:39191185-39191325	HepG2	liver:	n/a	n/a
20	CHD2	chr14:39261150-39261334	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr14:39278260-39278410	BE2_C	brain:	n/a	n/a
22	CTCF	chr14:39117827-39117905	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr14:39278320-39278470	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:39278280-39278667	HepG2	liver:	n/a	n/a
25	CTCF	chr14:39192406-39192933	MCF-7	breast:	n/a	chr14:39192675-39192696 chr14:39192687-39192694 chr14:39192681-39192697 chr14:39192680-39192698
26	CTCF	chr14:39191100-39191357	HepG2	liver:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
27	CTCF	chr14:39162740-39162890	HCT-116	colon:	n/a	n/a
28	CTCF	chr14:39191160-39191310	HCM	heart:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
29	CTCF	chr14:39191140-39191290	GM12875	blood:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
30	CTCF	chr14:39190848-39191424	IMR90	lung:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
31	CTCF	chr14:39163440-39163590	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:39191140-39191290	GM12865	blood:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
33	CTCF	chr14:39191140-39191430	A549	lung:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
34	CTCF	chr14:39191118-39191333	LNCaP	prostate:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
35	CTCF	chr14:39190985-39191424	H1-hESC	embryonic stem cell:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
36	CTCF	chr14:39162900-39163050	HCT-116	colon:	n/a	n/a
37	CTCF	chr14:39132219-39132232	MCF-7	breast:	n/a	n/a
38	CTCF	chr14:39207020-39207170	HRE	kidney:	n/a	chr14:39207102-39207120 chr14:39207105-39207118
39	CTCF	chr14:39191106-39191310	GM13976	blood:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
40	CTCF	chr14:39191129-39191297	SK-N-SH_RA	brain:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
41	CTCF	chr14:39192600-39192750	BE2_C	brain:	n/a	chr14:39192675-39192696 chr14:39192687-39192694 chr14:39192681-39192697 chr14:39192680-39192698
42	CTCF	chr14:39191120-39191270	GM12801	blood:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
43	CTCF	chr14:39191092-39191361	Pancreas_OC	pancreas:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
44	CTCF	chr14:39162785-39162876	MCF-7	breast:	n/a	n/a
45	CTCF	chr14:39278341-39278566	HepG2	liver:	n/a	n/a
46	CTCF	chr14:39204280-39204430	NB4	blood:	n/a	n/a
47	CTCF	chr14:39131500-39131650	HepG2	liver:	n/a	n/a
48	CTCF	chr14:39278360-39278510	GM12869	blood:	n/a	n/a
49	CTCF	chr14:39191140-39191290	SAEC	small airway:	n/a	chr14:39191228-39191249 chr14:39191229-39191242 chr14:39191226-39191244
50	CTCF	chr14:39278386-39278505	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39191195..39191809-chr14:39336434..39337274,3	MCF-7	breast:
2	chr14:39190717..39191738-chr14:39484001..39485313,7	MCF-7	breast:
3	chr14:39223383..39224246-chr6:89075754..89076656,2	MCF-7	breast:
4	chr14:39284637..39287612-chr14:39288269..39291004,2	K562	blood:
5	chr14:39269261..39271872-chr14:39273107..39275037,2	K562	blood:
6	chr14:21571639..21574238-chr14:39269844..39272001,2	MCF-7	breast:
7	chr14:39288692..39291150-chr14:39292998..39295978,2	K562	blood:
8	chr14:39190797..39191604-chr14:39484170..39485007,2	MCF-7	breast:
9	chr14:39269261..39271872-chr14:39273107..39275037,2	K562	blood:
10	chr14:39214251..39216737-chr14:39221189..39223720,2	MCF-7	breast:
11	chr14:39190911..39191748-chr14:39503600..39504605,4	MCF-7	breast:
12	chr14:39190760..39191270-chr14:39336463..39337395,3	K562	blood:
13	chr14:39284637..39287612-chr14:39288269..39291004,2	K562	blood:
14	chr14:39299667..39301167-chr17:41380346..41382223,2	K562	blood:
15	chr14:39116309..39118781-chr14:39205092..39207512,2	MCF-7	breast:
16	chr14:39301167..39302667-chr17:41380615..41383519,2	K562	blood:
17	chr14:39299647..39301167-chr17:41400823..41402637,2	MCF-7	breast:
18	chr14:39214251..39216737-chr14:39221189..39223720,2	MCF-7	breast:
19	chr14:39190836..39192002-chr14:39336266..39337492,9	MCF-7	breast:
20	chr14:39301612..39303299-chr14:39311657..39313476,2	MCF-7	breast:
21	chr14:39301147..39302647-chr17:41466196..41467820,2	MCF-7	breast:
22	chr14:39074390..39075072-chr14:39192252..39192857,2	MCF-7	breast:
23	chr14:39288692..39291150-chr14:39292998..39295978,2	K562	blood:
24	chr14:39116309..39118781-chr14:39205092..39207512,2	MCF-7	breast:
25	chr14:39299667..39302667-chr17:41399639..41402216,3	K562	blood:
26	chr14:39244076..39244917-chr2:3391368..3392121,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GEMIN2-9	chr14:39304593-39304992	NONHSAT036499

Variant related genes	Relation type
KRT8P1	TF binding region
ENSG00000258680	TF binding region
ENSG00000171853	chromatin interactions
ENSG00000165804	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000271468	chromatin interactions

Extended variants
information (count: 3630 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3630 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533697109	chr14:39115729-39115730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371748531	chr14:39115730-39115731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546939340	chr14:39115745-39115746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17108231	chr14:39115822-39115823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529489317	chr14:39115863-39115864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549154816	chr14:39115874-39115875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568644613	chr14:39115876-39115877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183831612	chr14:39115877-39115878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551378572	chr14:39116009-39116010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571120368	chr14:39116013-39116014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187551487	chr14:39116036-39116037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534097606	chr14:39116059-39116060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575705930	chr14:39116105-39116106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141989349	chr14:39116126-39116127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573975072	chr14:39116127-39116128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536486495	chr14:39116188-39116189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146328447	chr14:39116207-39116208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376951914	chr14:39116271-39116272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35815868	chr14:39116274-39116275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200189997	chr14:39116275-39116276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78422162	chr14:39116276-39116277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564517819	chr14:39116277-39116278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79980698	chr14:39116285-39116286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61999015	chr14:39116287-39116288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577909456	chr14:39116302-39116303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540615625	chr14:39116303-39116304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529294909	chr14:39116312-39116313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114628377	chr14:39116319-39116320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529526603	chr14:39116320-39116321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549191763	chr14:39116337-39116338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562713287	chr14:39116351-39116352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10138342	chr14:39116357-39116358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs192368609	chr14:39116392-39116393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148540805	chr14:39116395-39116396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533592870	chr14:39116425-39116426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547470843	chr14:39116440-39116441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567595718	chr14:39116444-39116445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565497180	chr14:39116493-39116494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183475884	chr14:39116501-39116502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556411809	chr14:39116503-39116504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541577314	chr14:39116507-39116508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112244760	chr14:39128428-39128429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190070210	chr14:39128508-39128509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528956896	chr14:39128509-39128510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548721820	chr14:39128538-39128539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568136187	chr14:39128550-39128551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114346655	chr14:39128567-39128568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574688196	chr14:39131200-39131201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543307112	chr14:39131253-39131254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183974229	chr14:39131261-39131262	Enhancers	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
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
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39115400-39116000	Enhancers	NH-A	brain
2	chr14:39115400-39116600	Enhancers	Brain Hippocampus Middle	brain
3	chr14:39115600-39116200	Enhancers	Brain Cingulate Gyrus	brain
4	chr14:39115800-39116400	Enhancers	Brain Germinal Matrix	brain
5	chr14:39116200-39116400	Enhancers	Brain Substantia Nigra	brain
6	chr14:39128400-39128600	Enhancers	Aorta	Aorta
7	chr14:39131200-39132400	Enhancers	Pancreas	Pancrea
8	chr14:39131800-39132200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:39132000-39132400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:39132000-39132600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:39162200-39162600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:39163400-39164000	Enhancers	Spleen	Spleen
13	chr14:39164200-39164600	Enhancers	Brain Substantia Nigra	brain
14	chr14:39164400-39164600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:39173000-39173400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:39173400-39173600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr14:39173600-39175800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr14:39175800-39181400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:39179800-39180400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr14:39179800-39180800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:39181400-39181800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr14:39181800-39185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:39184800-39186200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:39185800-39186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:39185800-39186800	Enhancers	Brain Hippocampus Middle	brain
26	chr14:39185800-39186800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr14:39185800-39186800	Enhancers	Hela-S3	cervix
28	chr14:39185800-39187600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr14:39185800-39188400	Enhancers	Brain Cingulate Gyrus	brain
30	chr14:39186000-39186400	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:39186000-39186400	Enhancers	HSMMtube	muscle
32	chr14:39186000-39186800	Enhancers	Primary B cells from cord blood	blood
33	chr14:39186000-39186800	Enhancers	Brain Angular Gyrus	brain
34	chr14:39186200-39186800	Enhancers	Brain Substantia Nigra	brain
35	chr14:39186400-39186600	Enhancers	Brain Anterior Caudate	brain
36	chr14:39186600-39197000	Weak transcription	Brain Anterior Caudate	brain
37	chr14:39186800-39187800	Weak transcription	Brain Substantia Nigra	brain
38	chr14:39186800-39188000	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:39186800-39191000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:39186800-39197400	Weak transcription	Brain Angular Gyrus	brain
41	chr14:39187600-39197000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:39187800-39188200	Enhancers	Adipose Nuclei	Adipose
43	chr14:39187800-39188200	Enhancers	Brain Substantia Nigra	brain
44	chr14:39187800-39188600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr14:39188000-39188400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:39188000-39188400	Enhancers	Brain Hippocampus Middle	brain
47	chr14:39188200-39197000	Weak transcription	Brain Substantia Nigra	brain
48	chr14:39188400-39196200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:39188400-39197000	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:39188600-39190800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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