Variant report

Variant	nsv1051931
Chromosome Location	chr14:40130325-40164269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40132521..40135651-chr14:40139926..40142042,3	MCF-7	breast:
2	chr14:40151450..40153481-chr14:40156215..40158887,2	MCF-7	breast:
3	chr14:40132521..40135651-chr14:40139926..40142042,3	MCF-7	breast:
4	chr14:40151450..40153481-chr14:40156215..40158887,2	MCF-7	breast:

Extended variants
information (count: 737 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74049109	chr14:40133236-40133237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147101470	chr14:40133246-40133247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565092668	chr14:40133262-40133263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376333423	chr14:40133351-40133352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185325805	chr14:40133357-40133358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190228422	chr14:40133443-40133444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17109562	chr14:40133458-40133459	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs554767168	chr14:40133459-40133460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182226909	chr14:40133494-40133495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543396672	chr14:40133505-40133506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563573811	chr14:40133524-40133525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184636903	chr14:40133543-40133544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10483534	chr14:40133549-40133550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs75496659	chr14:40133643-40133644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528196984	chr14:40133659-40133660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548263167	chr14:40133686-40133687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147747291	chr14:40133698-40133699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7147699	chr14:40133700-40133701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188206826	chr14:40133723-40133724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180733944	chr14:40133750-40133751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7148846	chr14:40133821-40133822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs552165358	chr14:40133835-40133836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372303963	chr14:40134025-40134026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs62014356	chr14:40134037-40134038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565692704	chr14:40134058-40134059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534838862	chr14:40134077-40134078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555041311	chr14:40134084-40134085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574571805	chr14:40134092-40134093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537270468	chr14:40134094-40134095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185517154	chr14:40134096-40134097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577217782	chr14:40134100-40134101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546072221	chr14:40134138-40134139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541065995	chr14:40134355-40134356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559436239	chr14:40134406-40134407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572866642	chr14:40134429-40134430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189762514	chr14:40134431-40134432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116089467	chr14:40134465-40134466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80063915	chr14:40134492-40134493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5808044	chr14:40134572-40134573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550365937	chr14:40134590-40134591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150199412	chr14:40134625-40134626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542818527	chr14:40134635-40134636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532671922	chr14:40134681-40134682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17109569	chr14:40134714-40134715	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181370318	chr14:40134782-40134783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs874826	chr14:40134892-40134893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs186899483	chr14:40134896-40134897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10483533	chr14:40134920-40134921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537107506	chr14:40134961-40134962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77809106	chr14:40134973-40134974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	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
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40133200-40134000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:40133600-40134600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:40133600-40134800	Enhancers	GM12878-XiMat	blood
4	chr14:40133800-40134200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:40133800-40134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:40134000-40134800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:40134200-40134600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr14:40134200-40142000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:40134400-40134800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:40134400-40134800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:40134600-40135000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:40134600-40141800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:40134800-40137800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:40134800-40140600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:40135600-40135800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:40135800-40143000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:40136800-40139000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr14:40137600-40138400	Enhancers	Dnd41	blood
19	chr14:40137600-40138600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr14:40137600-40138800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:40137600-40139000	Enhancers	Primary T cells from cord blood	blood
22	chr14:40137600-40139000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr14:40137600-40139400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr14:40137800-40138200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:40138000-40138800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr14:40138200-40141000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:40138800-40139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:40139000-40140800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:40139400-40140600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:40139800-40140000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:40140600-40140800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:40140600-40140800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:40140800-40141600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:40141000-40142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:40141400-40142600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:40141400-40143400	Enhancers	NH-A	brain
37	chr14:40141600-40141800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr14:40141600-40141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:40141600-40142400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:40141600-40142600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:40141600-40143400	Enhancers	Osteobl	bone
42	chr14:40141600-40143600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:40141600-40143600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:40141600-40144200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr14:40141800-40142200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:40141800-40142600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:40141800-40142600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:40142000-40142800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr14:40142000-40143200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:40142000-40143400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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