Variant report

Variant	esv14419
Chromosome Location	chr5:127901938-127903315
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	chr5:127896126..127898974-chr5:127902072..127903856,2	MCF-7	breast:
2	chr5:127881388..127883013-chr5:127901894..127903649,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6877748	chr5:127901985-127901986	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533746359	chr5:127902005-127902006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6877472	chr5:127902013-127902014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576827456	chr5:127902059-127902060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182209301	chr5:127902075-127902076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6877956	chr5:127902137-127902138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs145469034	chr5:127902166-127902167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576574976	chr5:127902193-127902194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542057650	chr5:127902220-127902221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147710129	chr5:127902221-127902222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75378336	chr5:127902337-127902338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6877872	chr5:127902339-127902340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs115814199	chr5:127902345-127902346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577239494	chr5:127902348-127902349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550254267	chr5:127902360-127902361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563680099	chr5:127902387-127902388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6878172	chr5:127902393-127902394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs548431984	chr5:127902394-127902395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568331024	chr5:127902396-127902397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557085013	chr5:127902399-127902400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73353642	chr5:127902414-127902415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187216459	chr5:127902439-127902440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6878062	chr5:127902477-127902478	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs539106642	chr5:127902521-127902522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149193300	chr5:127902542-127902543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191719956	chr5:127902552-127902553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560886386	chr5:127902571-127902572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13186921	chr5:127902577-127902578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572369764	chr5:127902581-127902582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139080780	chr5:127902591-127902592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541337626	chr5:127902608-127902609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143368631	chr5:127902625-127902626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115134176	chr5:127902703-127902704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543494598	chr5:127902710-127902711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563779500	chr5:127902717-127902718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529426705	chr5:127902719-127902720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148375755	chr5:127902739-127902740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561871532	chr5:127902754-127902755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72785174	chr5:127902765-127902766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183554819	chr5:127902777-127902778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570694807	chr5:127902815-127902816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185638128	chr5:127902924-127902925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77091137	chr5:127902925-127902926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74623859	chr5:127902930-127902931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10063961	chr5:127902945-127902946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79745987	chr5:127902947-127902948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372194281	chr5:127903001-127903002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190402326	chr5:127903032-127903033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569563253	chr5:127903034-127903035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376836997	chr5:127903056-127903057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127901200-127902800	Enhancers	A549	lung
2	chr5:127901400-127904000	Enhancers	Placenta	Placenta
3	chr5:127901600-127902400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr5:127901600-127903600	Enhancers	Hela-S3	cervix
5	chr5:127901800-127902200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:127901800-127902800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:127902000-127902600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:127902200-127903000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:127902400-127902600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:127902400-127902600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:127902400-127903200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:127902600-127903600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:127902600-127907200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:127902600-127907400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:127902800-127903200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:127902800-127907800	Weak transcription	A549	lung
17	chr5:127903000-127903400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:127903200-127903800	Enhancers	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links