Variant report

Variant	esv3445012
Chromosome Location	chr5:128327512-128328840
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	chr5:128327480..128330043-chr5:128331168..128333231,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564441686	chr5:128327520-128327521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17617329	chr5:128327584-128327585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs257907	chr5:128327601-128327602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs113454854	chr5:128327606-128327607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184896277	chr5:128327621-128327622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548336954	chr5:128327636-128327637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116693705	chr5:128327761-128327762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549226670	chr5:128327772-128327773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566137788	chr5:128327820-128327821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7723102	chr5:128327823-128327824	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs535485424	chr5:128327877-128327878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190929642	chr5:128327880-128327881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547573187	chr5:128327902-128327903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73784818	chr5:128327909-128327910	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139406154	chr5:128327937-128327938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556475201	chr5:128327970-128327971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569581238	chr5:128328082-128328083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550609714	chr5:128328087-128328088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182009815	chr5:128328089-128328090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555190688	chr5:128328097-128328098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1181990	chr5:128328165-128328166	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369147526	chr5:128328177-128328178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3851463	chr5:128328182-128328183	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs759141	chr5:128328213-128328214	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs759140	chr5:128328219-128328220	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529619737	chr5:128328251-128328252	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187171718	chr5:128328293-128328294	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191988793	chr5:128328332-128328333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145712417	chr5:128328333-128328334	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183358725	chr5:128328337-128328338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs759139	chr5:128328397-128328398	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528636108	chr5:128328405-128328406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188317607	chr5:128328432-128328433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190124384	chr5:128328443-128328444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34283563	chr5:128328529-128328530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528454019	chr5:128328588-128328589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564300825	chr5:128328607-128328608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34379154	chr5:128328668-128328669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147767131	chr5:128328687-128328688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533146039	chr5:128328711-128328712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549819628	chr5:128328755-128328756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs885714	chr5:128328768-128328769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12656532	chr5:128328781-128328782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141141802	chr5:128328782-128328783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372503191	chr5:128328785-128328786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182298367	chr5:128328826-128328827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557418637	chr5:128328839-128328840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128309600-128338200	Weak transcription	Left Ventricle	heart
2	chr5:128320800-128328000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:128321000-128335000	Weak transcription	Fetal Heart	heart
4	chr5:128326600-128335000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:128326800-128327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:128327000-128328200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:128327400-128327800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:128327800-128328000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:128327800-128328200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:128328000-128329000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:128328200-128328600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:128328600-128330000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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