Variant report

Variant	nsv902159
Chromosome Location	chr14:84336944-84447356
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	BATF	chr14:84340972-84341256	GM12878	blood:	n/a	n/a
2	BHLHE40	chr14:84341181-84341193	GM12878	blood:	n/a	n/a
3	BHLHE40	chr14:84352166-84352536	GM12878	blood:	n/a	chr14:84352345-84352361
4	CEBPB	chr14:84403213-84403467	A549	lung:	n/a	chr14:84403301-84403312 chr14:84403303-84403312
5	CEBPB	chr14:84443820-84444127	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:84441686-84442288	Hela-S3	cervix:	n/a	chr14:84441749-84441762 chr14:84441749-84441762
7	CEBPB	chr14:84407947-84408219	HepG2	liver:	n/a	chr14:84408069-84408080
8	CEBPB	chr14:84379878-84380231	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:84419661-84419758	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:84407983-84408205	H1-hESC	embryonic stem cell:	n/a	chr14:84408069-84408080
11	CEBPB	chr14:84388724-84389429	HepG2	liver:	n/a	chr14:84389265-84389274 chr14:84388877-84388888 chr14:84389265-84389274 chr14:84389265-84389274 chr14:84389264-84389275 chr14:84389263-84389276 chr14:84389263-84389274 chr14:84389265-84389274 chr14:84389263-84389276 chr14:84388879-84388888
12	CEBPB	chr14:84383205-84383415	A549	lung:	n/a	n/a
13	CEBPB	chr14:84350190-84350420	MCF-7	breast:	n/a	n/a
14	CEBPB	chr14:84371712-84371922	A549	lung:	n/a	n/a
15	CEBPB	chr14:84407912-84408250	IMR90	lung:	n/a	chr14:84408069-84408080
16	CEBPB	chr14:84388839-84389433	IMR90	lung:	n/a	chr14:84389265-84389274 chr14:84388877-84388888 chr14:84389265-84389274 chr14:84389265-84389274 chr14:84389264-84389275 chr14:84389263-84389276 chr14:84389263-84389274 chr14:84389265-84389274 chr14:84389263-84389276 chr14:84388879-84388888
17	CEBPB	chr14:84434487-84434814	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr14:84407916-84408169	A549	lung:	n/a	chr14:84408069-84408080
19	CHD1	chr14:84343268-84343281	GM12878	blood:	n/a	n/a
20	CHD2	chr14:84341177-84341303	GM12878	blood:	n/a	n/a
21	CHD2	chr14:84340116-84340131	GM12878	blood:	n/a	n/a
22	CTCF	chr14:84406720-84406870	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr14:84406712-84406844	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr14:84406725-84406801	ProgFib	skin:	n/a	n/a
25	CTCF	chr14:84406760-84406910	AG04449	skin:	n/a	n/a
26	CTCF	chr14:84406701-84406888	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr14:84355013-84355088	GM13976	blood:	n/a	n/a
28	CTCF	chr14:84406704-84406879	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:84437560-84437710	NHEK	skin:	n/a	n/a
30	CTCF	chr14:84406694-84406888	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:84406780-84406930	HVMF	connective:	n/a	n/a
32	CTCF	chr14:84406720-84406870	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr14:84406695-84406826	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr14:84406800-84406950	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr14:84387118-84387144	GM20000	blood:	n/a	n/a
36	CTCF	chr14:84406620-84406770	HVMF	connective:	n/a	n/a
37	CTCF	chr14:84406693-84406876	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr14:84406720-84406870	HPF	lung:	n/a	n/a
39	CTCF	chr14:84406740-84406890	AG04450	lung:	n/a	n/a
40	CTCF	chr14:84406680-84406830	NHEK	skin:	n/a	n/a
41	CTCF	chr14:84406712-84406874	NHEK	skin:	n/a	n/a
42	CTCF	chr14:84406760-84406910	SAEC	small airway:	n/a	n/a
43	CTCF	chr14:84406525-84406983	MCF-7	breast:	n/a	n/a
44	CTCF	chr14:84406700-84406850	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr14:84420380-84420530	AG10803	skin:	n/a	n/a
46	CTCF	chr14:84406615-84406864	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr14:84406700-84406850	AG09319	gingival:	n/a	n/a
48	CTCF	chr14:84390360-84390510	NHEK	skin:	n/a	n/a
49	CTCF	chr14:84406700-84406850	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr14:84406680-84406830	HCM	heart:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:84426646..84427507-chr22:40833139..40833800,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEL1L-7	chr14:84369854-84370035	XLOC_011090
2	lnc-SEL1L-7	chr14:84380292-84380388	XLOC_011090
3	lnc-SEL1L-7	chr14:84373216-84373525	ENSG00000258532
4	lnc-SEL1L-7	chr14:84369854-84370035	XLOC_011090
5	lnc-SEL1L-7	chr14:84380292-84380385	ENSG00000258532
6	lnc-SEL1L-7	chr14:84380292-84380388	XLOC_011090
7	lnc-SEL1L-7	chr14:84381323-84381394	ENSG00000258532
8	lnc-SEL1L-7	chr14:84381323-84381645	XLOC_011090

Variant related genes	Relation type
ENSG00000258532	TF binding region
SNX7	miRNA target sites
NIN	miRNA target sites

Extended variants
information (count: 2563 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2563 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1756282	chr14:84336944-84336945	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577593210	chr14:84336987-84336988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149889926	chr14:84337006-84337007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550329157	chr14:84337109-84337110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10130631	chr14:84337112-84337113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539240284	chr14:84337120-84337121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190249861	chr14:84337150-84337151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144390703	chr14:84337177-84337178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535801594	chr14:84337270-84337271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554182147	chr14:84337337-84337338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116800130	chr14:84337395-84337396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536774099	chr14:84337399-84337400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558700304	chr14:84337422-84337423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554704427	chr14:84337429-84337430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370002202	chr14:84337430-84337431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547131420	chr14:84337440-84337441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs74391301	chr14:84337441-84337442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201813893	chr14:84337442-84337443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182461284	chr14:84337464-84337465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71303817	chr14:84337544-84337545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576928039	chr14:84337551-84337552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148798703	chr14:84337557-84337558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559646179	chr14:84337583-84337584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201100704	chr14:84337615-84337616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71452951	chr14:84337638-84337639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144784767	chr14:84337677-84337678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543041761	chr14:84337678-84337679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188567767	chr14:84337723-84337724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537174451	chr14:84337770-84337771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77295900	chr14:84337784-84337785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549974855	chr14:84337802-84337803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565403091	chr14:84337842-84337843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193099173	chr14:84337861-84337862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17119169	chr14:84337862-84337863	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566020855	chr14:84337869-84337870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558111182	chr14:84337888-84337889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368427273	chr14:84338027-84338028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1705641	chr14:84338032-84338033	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147935517	chr14:84338057-84338058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569345368	chr14:84338082-84338083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4904144	chr14:84338142-84338143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558341128	chr14:84338154-84338155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4904145	chr14:84338200-84338201	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183258495	chr14:84338205-84338206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553251097	chr14:84338215-84338216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574763932	chr14:84338223-84338224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141778647	chr14:84338295-84338296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112076394	chr14:84338306-84338307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563591728	chr14:84338307-84338308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189070169	chr14:84338327-84338328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84334600-84337000	Weak transcription	Fetal Brain Male	brain
2	chr14:84334600-84337000	Weak transcription	Fetal Stomach	stomach
3	chr14:84334600-84339400	Weak transcription	Ovary	ovary
4	chr14:84336200-84337400	Enhancers	Fetal Brain Female	brain
5	chr14:84336800-84337000	Weak transcription	Fetal Lung	lung
6	chr14:84336800-84338400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:84336800-84338400	Enhancers	HSMMtube	muscle
8	chr14:84337000-84337800	Enhancers	Fetal Lung	lung
9	chr14:84337000-84338000	Enhancers	Fetal Brain Male	brain
10	chr14:84337000-84342400	Enhancers	Fetal Stomach	stomach
11	chr14:84337800-84339800	Weak transcription	Fetal Lung	lung
12	chr14:84338400-84339800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:84338400-84340600	Weak transcription	HSMMtube	muscle
14	chr14:84339400-84340000	Enhancers	Ovary	ovary
15	chr14:84339800-84340000	Enhancers	Fetal Brain Male	brain
16	chr14:84339800-84340200	Enhancers	Colon Smooth Muscle	Colon
17	chr14:84339800-84340200	Enhancers	Rectal Smooth Muscle	rectum
18	chr14:84339800-84340400	Enhancers	Fetal Lung	lung
19	chr14:84339800-84340600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:84339800-84341200	Enhancers	Fetal Kidney	kidney
21	chr14:84340000-84342600	Weak transcription	Ovary	ovary
22	chr14:84340200-84340800	Enhancers	Adipose Nuclei	Adipose
23	chr14:84340600-84341200	Enhancers	HSMMtube	muscle
24	chr14:84340800-84341600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:84340800-84341600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:84342600-84342800	Enhancers	Ovary	ovary
27	chr14:84342800-84351400	Weak transcription	Ovary	ovary
28	chr14:84351400-84353200	Enhancers	Ovary	ovary
29	chr14:84352400-84352800	Flanking Active TSS	Fetal Lung	lung
30	chr14:84352800-84353200	Enhancers	Fetal Lung	lung
31	chr14:84353400-84354400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:84353800-84354200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:84353800-84354200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr14:84353800-84354400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:84354200-84359400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:84354200-84359600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:84354400-84362600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:84359400-84359600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:84359400-84359800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:84359400-84363200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:84359600-84360600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr14:84359600-84360800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:84359600-84361400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr14:84359600-84361400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr14:84359600-84362800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:84359600-84363000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:84359800-84361000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr14:84360000-84360400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:84360000-84362000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr14:84360600-84361000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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