Variant report

Variant	nsv528927
Chromosome Location	chr14:84378369-84390391
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	chr14:84388724-84389429	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
2	CEBPB	chr14:84379878-84380231	Hela-S3	cervix:	n/a	n/a
3	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
4	CEBPB	chr14:84383205-84383415	A549	lung:	n/a	n/a
5	CTCF	chr14:84386228-84386244	Fibrobl	skin:	n/a	n/a
6	CTCF	chr14:84390360-84390510	NHEK	skin:	n/a	n/a
7	CTCF	chr14:84378960-84379110	AG04450	lung:	n/a	n/a
8	CTCF	chr14:84387118-84387144	GM20000	blood:	n/a	n/a
9	E2F6	chr14:84386120-84386380	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr14:84379881-84380178	Hela-S3	cervix:	n/a	n/a
11	FOS	chr14:84379898-84380229	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr14:84379825-84380237	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr14:84379900-84380164	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr14:84386783-84386983	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:84379894-84380199	Hela-S3	cervix:	n/a	n/a
16	FOS	chr14:84379866-84380246	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr14:84379785-84380241	Hela-S3	cervix:	n/a	n/a
18	MYC	chr14:84384031-84384274	MCF10A-Er-Src	breast:	n/a	n/a
19	NFYB	chr14:84379845-84380185	Hela-S3	cervix:	n/a	n/a
20	PAX5	chr14:84386171-84386354	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:84386166-84386263	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:84380641-84380644	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr14:84385214-84385376	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:84387850-84387876	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:84384041-84384240	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr14:84388060-84388224	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr14:84387218-84387327	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr14:84385501-84385607	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr14:84379871-84380168	Hela-S3	cervix:	n/a	chr14:84380007-84380016

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEL1L-7	chr14:84380292-84380388	XLOC_011090
2	lnc-SEL1L-7	chr14:84381323-84381645	XLOC_011090
3	lnc-SEL1L-7	chr14:84380292-84380388	XLOC_011090
4	lnc-SEL1L-7	chr14:84380292-84380385	ENSG00000258532
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: 164 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1705665	chr14:84378369-84378370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12893266	chr14:84378373-84378374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368958469	chr14:84378422-84378423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544753591	chr14:84378461-84378462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530329027	chr14:84378469-84378470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191545527	chr14:84378489-84378490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72699218	chr14:84378521-84378522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs560326438	chr14:84378567-84378568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61985912	chr14:84378587-84378588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8018846	chr14:84378622-84378623	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531607498	chr14:84378640-84378641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550113891	chr14:84378673-84378674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569254448	chr14:84378677-84378678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182891423	chr14:84378720-84378721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551575436	chr14:84378754-84378755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566916697	chr14:84378783-84378784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534040485	chr14:84378798-84378799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8019030	chr14:84378827-84378828	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567537172	chr14:84378831-84378832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186502703	chr14:84378833-84378834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554573549	chr14:84378846-84378847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538135940	chr14:84378932-84378933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566781856	chr14:84378961-84378962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148537441	chr14:84378983-84378984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545025987	chr14:84379048-84379049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35849677	chr14:84379088-84379089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552276644	chr14:84379106-84379107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12588746	chr14:84379113-84379114	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545261690	chr14:84379114-84379115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373021859	chr14:84379137-84379138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572060204	chr14:84379176-84379177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542765577	chr14:84379184-84379185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558755396	chr14:84379204-84379205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576958426	chr14:84379220-84379221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190891948	chr14:84379258-84379259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113364244	chr14:84379259-84379260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565224403	chr14:84379264-84379265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376475320	chr14:84379302-84379303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551708493	chr14:84379388-84379389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34171575	chr14:84379413-84379414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566775820	chr14:84379530-84379531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527747208	chr14:84379531-84379532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182418238	chr14:84379543-84379544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544325683	chr14:84379557-84379558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187521591	chr14:84379590-84379591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116007931	chr14:84379636-84379637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142765701	chr14:84379654-84379655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12879095	chr14:84379656-84379657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568014276	chr14:84379680-84379681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535757579	chr14:84379736-84379737	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:12 , 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

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