Variant report

Variant	nsv565374
Chromosome Location	chr14:84104059-84159334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:84098036..84100982-chr14:84103908..84106262,4	MCF-7	breast:
2	chr14:84115488..84118207-chr14:84119783..84122747,2	MCF-7	breast:
3	chr14:84096941..84099822-chr14:84104524..84106875,3	MCF-7	breast:
4	chr14:84115488..84118207-chr14:84119783..84122747,2	MCF-7	breast:

Extended variants
information (count: 623 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12887744	chr14:84104059-84104060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550222330	chr14:84104077-84104078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180988206	chr14:84104126-84104127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148614795	chr14:84104250-84104251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554298868	chr14:84104270-84104271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186007339	chr14:84104279-84104280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202100136	chr14:84104287-84104288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566129345	chr14:84104302-84104303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536882521	chr14:84104333-84104334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189335135	chr14:84104359-84104360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181287775	chr14:84104373-84104374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142434035	chr14:84104378-84104379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562079389	chr14:84104381-84104382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1953450	chr14:84104409-84104410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs151332533	chr14:84104431-84104432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73357789	chr14:84104436-84104437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550703314	chr14:84104460-84104461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76266249	chr14:84104500-84104501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370708901	chr14:84104503-84104504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114895916	chr14:84104534-84104535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538857680	chr14:84104544-84104545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142276108	chr14:84104584-84104585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563409620	chr14:84104586-84104587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567235097	chr14:84104638-84104639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550160856	chr14:84104749-84104750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565285472	chr14:84104786-84104787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532600794	chr14:84104803-84104804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547554398	chr14:84104808-84104809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140634912	chr14:84104975-84104976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115271009	chr14:84104981-84104982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548777393	chr14:84105002-84105003	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569972546	chr14:84105040-84105041	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377619337	chr14:84105118-84105119	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537350412	chr14:84105144-84105145	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76355253	chr14:84105147-84105148	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576420870	chr14:84105174-84105175	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533330130	chr14:84105193-84105194	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190655504	chr14:84105204-84105205	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554318958	chr14:84105212-84105213	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs114446525	chr14:84105217-84105218	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574498021	chr14:84105235-84105236	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs148424445	chr14:84105310-84105311	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541628221	chr14:84105318-84105319	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs144376953	chr14:84105386-84105387	Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs575565468	chr14:84105404-84105405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs12433989	chr14:84105489-84105490	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373839727	chr14:84105538-84105539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs564403788	chr14:84105554-84105555	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs10138937	chr14:84105555-84105556	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12436794	chr14:84105562-84105563	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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	21987784	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:84099200-84105200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:84102200-84105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:84104400-84105000	Enhancers	HepG2	liver
4	chr14:84105000-84105200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr14:84105000-84106000	Active TSS	HepG2	liver
6	chr14:84105200-84105400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
7	chr14:84105200-84105600	Active TSS	A549	lung
8	chr14:84105200-84106000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:84105200-84106200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr14:84105400-84106200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:84105600-84106000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:84112800-84113400	Enhancers	Fetal Stomach	stomach
13	chr14:84119200-84119600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr14:84127200-84127600	Enhancers	Liver	Liver
15	chr14:84127400-84127600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:84127600-84131000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:84128800-84129000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:84129000-84129400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:84129000-84129400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:84129000-84129400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:84129000-84129400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:84129000-84129600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:84129000-84130400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:84129200-84129400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:84129200-84129400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr14:84129400-84130800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:84129400-84130800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:84129400-84131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:84129400-84137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:84129600-84130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:84129600-84130800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:84130400-84131400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr14:84130400-84131800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:84130800-84131200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr14:84130800-84131200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr14:84130800-84131400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:84130800-84131600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:84130800-84131800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:84131000-84131200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr14:84131000-84131400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:84131000-84131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:84131000-84131400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:84131000-84131400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:84137800-84138000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:84144400-84145000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:84145200-84147200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:84147200-84147400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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