Variant report

Variant	nsv565380
Chromosome Location	chr14:85291485-85302121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:85276415..85277177-chr14:85295527..85296295,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12881349	chr14:85291485-85291486	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574056153	chr14:85291527-85291528	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143796826	chr14:85291610-85291611	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186519026	chr14:85291630-85291631	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190563716	chr14:85291645-85291646	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545888062	chr14:85291665-85291666	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564071067	chr14:85291688-85291689	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528177920	chr14:85291753-85291754	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559809316	chr14:85291762-85291763	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561642773	chr14:85291805-85291806	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183518067	chr14:85291820-85291821	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532942853	chr14:85291831-85291832	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151310887	chr14:85291917-85291918	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561775576	chr14:85291919-85291920	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569082070	chr14:85291934-85291935	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551164076	chr14:85291988-85291989	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186413636	chr14:85292004-85292005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563237672	chr14:85292064-85292065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117307717	chr14:85292068-85292069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536529805	chr14:85292070-85292071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34441291	chr14:85292083-85292084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370527860	chr14:85292102-85292103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71452984	chr14:85292104-85292105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35373087	chr14:85292115-85292116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35435454	chr14:85292127-85292128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534686220	chr14:85292208-85292209	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530753577	chr14:85292255-85292256	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535096349	chr14:85292290-85292291	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs77220631	chr14:85292291-85292292	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191207111	chr14:85292306-85292307	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113234209	chr14:85292322-85292323	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535758256	chr14:85292324-85292325	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs557187335	chr14:85292326-85292327	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548556275	chr14:85292365-85292366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575892569	chr14:85292396-85292397	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs118104164	chr14:85292406-85292407	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs74373693	chr14:85292431-85292432	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs534636570	chr14:85292438-85292439	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149937803	chr14:85292470-85292471	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs140556013	chr14:85292488-85292489	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs546344355	chr14:85292489-85292490	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540299357	chr14:85292504-85292505	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182652925	chr14:85292561-85292562	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs528853244	chr14:85292573-85292574	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs550896694	chr14:85292619-85292620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562685231	chr14:85292668-85292669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113481891	chr14:85292681-85292682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116183279	chr14:85292689-85292690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187571393	chr14:85292700-85292701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527386255	chr14:85292706-85292707	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85290200-85292600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr14:85290200-85293000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:85290400-85292600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:85290600-85292200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr14:85290600-85292200	Enhancers	NHEK	skin
6	chr14:85291000-85291600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:85291000-85293000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr14:85291200-85292600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:85291400-85292000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:85291400-85292600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:85291400-85293000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:85291400-85293800	Enhancers	HMEC	breast
13	chr14:85291600-85291800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:85291600-85292400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:85291600-85292400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:85291600-85292400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr14:85291600-85293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:85291600-85293800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:85291800-85292400	Enhancers	NH-A	brain
20	chr14:85291800-85292600	Enhancers	Hela-S3	cervix
21	chr14:85291800-85293000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:85291800-85293000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:85291800-85293600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:85292000-85293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr14:85292200-85292600	Flanking Active TSS	NHEK	skin
26	chr14:85292600-85293800	Enhancers	NHEK	skin
27	chr14:85299400-85300200	Enhancers	HUES6 Cell Line	embryonic stem cell

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