Variant report

Variant	esv1829021
Chromosome Location	chr14:85106009-85196163
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	chr13:112308570..112309331-chr14:85196106..85196606,2	MCF-7	breast:

Extended variants
information (count: 1366 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7141196	chr14:85106009-85106010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs36126740	chr14:85106023-85106024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545496075	chr14:85106046-85106047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551252389	chr14:85106097-85106098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140789956	chr14:85106103-85106104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150079592	chr14:85106154-85106155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190206812	chr14:85106171-85106172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138543705	chr14:85106220-85106221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547931500	chr14:85106221-85106222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535536574	chr14:85106250-85106251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576185230	chr14:85106275-85106276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575708348	chr14:85106310-85106311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142224287	chr14:85106340-85106341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558476173	chr14:85106362-85106363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573607269	chr14:85106407-85106408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17185995	chr14:85106457-85106458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182449797	chr14:85106469-85106470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576450707	chr14:85106470-85106471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145920970	chr14:85106488-85106489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543968078	chr14:85106507-85106508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563063793	chr14:85106554-85106555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1383779	chr14:85106563-85106564	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532750628	chr14:85106621-85106622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1383780	chr14:85106628-85106629	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187923063	chr14:85106634-85106635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193018773	chr14:85106641-85106642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185697888	chr14:85106678-85106679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1383781	chr14:85106742-85106743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567301210	chr14:85106749-85106750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531582648	chr14:85106890-85106891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148691735	chr14:85106914-85106915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550789497	chr14:85106930-85106931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60772658	chr14:85106951-85106952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs188077285	chr14:85106955-85106956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558156138	chr14:85106972-85106973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566889310	chr14:85106980-85106981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149603745	chr14:85106997-85106998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77284723	chr14:85107010-85107011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574142488	chr14:85107012-85107013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140092645	chr14:85107025-85107026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76241501	chr14:85107029-85107030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144286511	chr14:85107033-85107034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117719404	chr14:85107057-85107058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192121069	chr14:85107072-85107073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184669462	chr14:85107105-85107106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577287438	chr14:85107129-85107130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544716739	chr14:85107130-85107131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373211812	chr14:85107216-85107217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527281555	chr14:85107231-85107232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542556659	chr14:85107251-85107252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85099000-85106200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:85106200-85106400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:85106200-85108000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr14:85106400-85106600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:85106400-85107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:85106400-85108000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:85106600-85107000	Enhancers	Fetal Lung	lung
8	chr14:85106600-85107600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:85107000-85107400	Weak transcription	Fetal Lung	lung
10	chr14:85107000-85110600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:85107400-85107800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:85107400-85108400	Enhancers	Fetal Lung	lung
13	chr14:85107600-85107800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr14:85107600-85108000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:85107600-85108000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:85107600-85108600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:85108000-85108400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:85108000-85109000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:85108000-85109200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:85108400-85110600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:85108600-85109000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:85109000-85110400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:85109000-85110600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:85109200-85109600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr14:85109200-85109800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:85109400-85109800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:85109400-85110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:85109600-85110800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr14:85113000-85113800	Enhancers	NH-A	brain
30	chr14:85123600-85125000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:85123800-85124800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:85132600-85135400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr14:85135400-85135600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:85135600-85143600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr14:85137000-85138000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:85137000-85138400	Enhancers	Adipose Nuclei	Adipose
37	chr14:85143600-85145000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:85144200-85145000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:85154400-85155800	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:85154400-85156000	Enhancers	Colon Smooth Muscle	Colon
41	chr14:85155800-85160600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:85156000-85160200	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:85160200-85161000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr14:85160200-85161800	Enhancers	Colon Smooth Muscle	Colon
45	chr14:85160400-85160800	Enhancers	Adipose Nuclei	Adipose
46	chr14:85160600-85161600	Enhancers	Fetal Lung	lung
47	chr14:85160600-85161800	Enhancers	Fetal Brain Male	brain
48	chr14:85160600-85161800	Enhancers	Rectal Smooth Muscle	rectum
49	chr14:85161200-85161800	Enhancers	Ovary	ovary
50	chr14:85161600-85161800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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