Variant report

Variant	esv1792427
Chromosome Location	chr5:135744555-135755386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 399 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111758787	chr5:135744589-135744590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551855545	chr5:135744608-135744609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566865362	chr5:135744614-135744615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188597490	chr5:135744628-135744629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549089710	chr5:135744643-135744644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146496048	chr5:135744647-135744648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376572829	chr5:135744654-135744655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112555134	chr5:135744659-135744660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371200922	chr5:135744688-135744689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141297314	chr5:135744697-135744698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145030212	chr5:135744743-135744744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557800843	chr5:135744795-135744796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192543914	chr5:135744846-135744847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151276906	chr5:135744847-135744848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372826569	chr5:135744859-135744860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74612232	chr5:135744974-135744975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573725599	chr5:135744997-135744998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184373223	chr5:135745074-135745075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140428491	chr5:135745082-135745083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150409294	chr5:135745097-135745098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545292456	chr5:135745267-135745268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs346629	chr5:135745273-135745274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs527772295	chr5:135745285-135745286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549499035	chr5:135745300-135745301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558995365	chr5:135745350-135745351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138317459	chr5:135745384-135745385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189654186	chr5:135745424-135745425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550419771	chr5:135745465-135745466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182072569	chr5:135745515-135745516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539376575	chr5:135745532-135745533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144135263	chr5:135745578-135745579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566698327	chr5:135745580-135745581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146749502	chr5:135745591-135745592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566159782	chr5:135745595-135745596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555440828	chr5:135745616-135745617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372339226	chr5:135745620-135745621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139289206	chr5:135745665-135745666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143213307	chr5:135745694-135745695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143917715	chr5:135745729-135745730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17791023	chr5:135745768-135745769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs148223589	chr5:135745784-135745785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531962987	chr5:135745791-135745792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560512808	chr5:135745802-135745803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572648104	chr5:135745814-135745815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554968053	chr5:135745840-135745841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545727292	chr5:135745896-135745897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561057863	chr5:135745907-135745908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141135441	chr5:135745908-135745909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112178527	chr5:135745921-135745922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564972626	chr5:135745926-135745927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute myeloid leukemia	17377590	CNVD
Colorectal cancer	16912164	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Myelofibrosis	19240791	CNVD
Developmental delay	19128483	CNVD
Leukoplakia	24403051	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:135742200-135754400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:135745000-135745800	Enhancers	HUVEC	blood vessel
3	chr5:135749200-135749400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:135749400-135750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:135750600-135750800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:135750600-135750800	Bivalent Enhancer	Aorta	Aorta
7	chr5:135750800-135754600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:135752000-135753000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:135753000-135754000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:135753400-135756800	Enhancers	Fetal Kidney	kidney
11	chr5:135754000-135754200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:135754000-135756800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:135754200-135754600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:135754400-135754800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:135754400-135756200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:135754600-135755200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:135754600-135756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:135755200-135760400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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