Variant report

Variant	nsv1037238
Chromosome Location	chr14:84376916-84407921
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	CEBPB	chr14:84383205-84383415	A549	lung:	n/a	n/a
2	CEBPB	chr14:84379878-84380231	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr14:84407912-84408250	IMR90	lung:	n/a	chr14:84408069-84408080
4	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
5	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
6	CEBPB	chr14:84403213-84403467	A549	lung:	n/a	chr14:84403301-84403312 chr14:84403303-84403312
7	CEBPB	chr14:84407916-84408169	A549	lung:	n/a	chr14:84408069-84408080
8	CTCF	chr14:84386228-84386244	Fibrobl	skin:	n/a	n/a
9	CTCF	chr14:84378960-84379110	AG04450	lung:	n/a	n/a
10	CTCF	chr14:84406760-84406910	SAEC	small airway:	n/a	n/a
11	CTCF	chr14:84406780-84406930	HVMF	connective:	n/a	n/a
12	CTCF	chr14:84387118-84387144	GM20000	blood:	n/a	n/a
13	CTCF	chr14:84406720-84406870	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr14:84406680-84406830	NHEK	skin:	n/a	n/a
15	CTCF	chr14:84406760-84406910	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr14:84406680-84406913	T-47D	breast:	n/a	n/a
17	CTCF	chr14:84406740-84406890	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr14:84406693-84406876	Pancreas_OC	pancreas:	n/a	n/a
19	CTCF	chr14:84406525-84406983	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:84406701-84406888	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr14:84391187-84391408	GM12878	blood:	n/a	n/a
22	CTCF	chr14:84406686-84406871	Medullo	brain:	n/a	n/a
23	CTCF	chr14:84406712-84406874	NHEK	skin:	n/a	n/a
24	CTCF	chr14:84406760-84406910	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr14:84406696-84406862	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr14:84406720-84406870	HEK293	kidney:	n/a	n/a
27	CTCF	chr14:84406700-84406850	AG04449	skin:	n/a	n/a
28	CTCF	chr14:84406740-84406890	AG04450	lung:	n/a	n/a
29	CTCF	chr14:84406680-84406830	HCM	heart:	n/a	n/a
30	CTCF	chr14:84406704-84406879	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:84406720-84406870	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr14:84406625-84406943	GM12878	blood:	n/a	n/a
33	CTCF	chr14:84406760-84406910	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr14:84406694-84406888	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:84406700-84406850	HA-sp	spinal cord:	n/a	n/a
36	CTCF	chr14:84406700-84406850	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr14:84406680-84406830	AG09319	gingival:	n/a	n/a
38	CTCF	chr14:84406660-84406810	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr14:84406620-84406770	HVMF	connective:	n/a	n/a
40	CTCF	chr14:84406685-84406882	LNCaP	prostate:	n/a	n/a
41	CTCF	chr14:84406700-84406850	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr14:84406720-84406870	HPF	lung:	n/a	n/a
43	CTCF	chr14:84406700-84406850	AG09319	gingival:	n/a	n/a
44	CTCF	chr14:84406720-84406870	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr14:84405880-84406030	GM06990	blood:	n/a	n/a
46	CTCF	chr14:84406491-84406973	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr14:84406695-84406826	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr14:84406740-84406890	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:84406681-84406885	LNCaP	prostate:	n/a	n/a
50	CTCF	chr14:84406700-84406850	HEEpiC	esophagus:	n/a	n/a

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

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

Extended variants
information (count: 239 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566610371	chr14:84377015-84377016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534097794	chr14:84377017-84377018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370188997	chr14:84377029-84377030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553062506	chr14:84377060-84377061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544288907	chr14:84377088-84377089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138007744	chr14:84377102-84377103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17646445	chr14:84377103-84377104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530012216	chr14:84377169-84377170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182551289	chr14:84377200-84377201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575903006	chr14:84377208-84377209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372674615	chr14:84377211-84377212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs951131	chr14:84377228-84377229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs370159392	chr14:84377244-84377245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78091869	chr14:84377305-84377306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376215826	chr14:84377312-84377313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528731111	chr14:84377331-84377332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144671702	chr14:84377339-84377340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537420874	chr14:84377364-84377365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528887972	chr14:84377378-84377379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12433033	chr14:84377420-84377421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75894542	chr14:84377449-84377450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148221248	chr14:84377450-84377451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184736299	chr14:84377485-84377486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535695638	chr14:84377486-84377487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566682139	chr14:84377572-84377573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533810348	chr14:84377606-84377607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189151903	chr14:84377616-84377617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568439972	chr14:84377620-84377621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372233446	chr14:84377642-84377643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535894972	chr14:84377644-84377645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557481469	chr14:84377651-84377652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554013944	chr14:84377687-84377688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569938438	chr14:84377704-84377705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142018088	chr14:84377715-84377716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141129227	chr14:84377741-84377742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377254677	chr14:84377742-84377743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1705664	chr14:84377743-84377744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs180931699	chr14:84377745-84377746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150723337	chr14:84377749-84377750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540549588	chr14:84377753-84377754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562092120	chr14:84377759-84377760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573292845	chr14:84377806-84377807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200141358	chr14:84377822-84377823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139396051	chr14:84377831-84377832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144074075	chr14:84377883-84377884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147335570	chr14:84377910-84377911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184954430	chr14:84377926-84377927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560071473	chr14:84377949-84377950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527507197	chr14:84377979-84377980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549000639	chr14:84378018-84378019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84374600-84379800	Weak transcription	Hela-S3	cervix
2	chr14:84374800-84378400	Weak transcription	Adipose Nuclei	Adipose
3	chr14:84378200-84378600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:84378200-84379000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:84378200-84379200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:84378400-84378600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:84378400-84378800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:84378400-84378800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:84378400-84379000	Enhancers	Adipose Nuclei	Adipose
10	chr14:84379800-84380600	Enhancers	Hela-S3	cervix
11	chr14:84380200-84380800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr14:84390000-84390400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:84397400-84397800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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