Variant report

Variant	esv3349090
Chromosome Location	chr5:119019102-119055781
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	chr5:119042499..119044624-chr5:119047745..119049345,2	K562	blood:
2	chr5:119042499..119044624-chr5:119047745..119049345,2	K562	blood:

Extended variants
information (count: 680 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558415591	chr5:119019121-119019122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138097362	chr5:119019124-119019125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545959815	chr5:119019125-119019126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551955870	chr5:119019154-119019155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575937209	chr5:119019169-119019170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575191379	chr5:119019170-119019171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs330200	chr5:119019195-119019196	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112696523	chr5:119019215-119019216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34293241	chr5:119019229-119019230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182036488	chr5:119019249-119019250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527943473	chr5:119019337-119019338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115927707	chr5:119019351-119019352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370000866	chr5:119019392-119019393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149530199	chr5:119019419-119019420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543998275	chr5:119019438-119019439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546927528	chr5:119019458-119019459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4895201	chr5:119019518-119019519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538449548	chr5:119019534-119019535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201391096	chr5:119019570-119019571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144177515	chr5:119019575-119019576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55768319	chr5:119019585-119019586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7381175	chr5:119025701-119025702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201653566	chr5:119025714-119025715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1091395	chr5:119025717-119025718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1091570	chr5:119025752-119025753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369518676	chr5:119025809-119025810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201129697	chr5:119025853-119025854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7379913	chr5:119025860-119025861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373572984	chr5:119025907-119025908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376963660	chr5:119025998-119025999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56079859	chr5:119026029-119026030	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56167864	chr5:119026044-119026045	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370085008	chr5:119026067-119026068	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10037931	chr5:119026079-119026080	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10037942	chr5:119026087-119026088	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376419562	chr5:119026088-119026089	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540151108	chr5:119026092-119026093	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10037995	chr5:119026149-119026150	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573228101	chr5:119026165-119026166	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375604606	chr5:119026168-119026169	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377213321	chr5:119026175-119026176	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368349975	chr5:119026195-119026196	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1089559	chr5:119026207-119026208	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544434272	chr5:119026219-119026220	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564307148	chr5:119026222-119026223	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533139500	chr5:119026224-119026225	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540567606	chr5:119026227-119026228	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534192701	chr5:119026235-119026236	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368442697	chr5:119026242-119026243	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372761715	chr5:119026260-119026261	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119017200-119019400	Weak transcription	Pancreas	Pancrea
2	chr5:119019400-119019600	Enhancers	Pancreas	Pancrea
3	chr5:119025600-119026600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:119026000-119026400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr5:119026000-119026400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:119026400-119027600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr5:119026600-119027400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:119041200-119041400	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:119041200-119041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:119041400-119041800	Enhancers	Colonic Mucosa	Colon
11	chr5:119041400-119041800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr5:119041600-119042200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:119041800-119042200	Weak transcription	Colonic Mucosa	Colon
14	chr5:119041800-119042200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr5:119042000-119042200	Enhancers	Lung	lung
16	chr5:119042200-119042400	Active TSS	Colonic Mucosa	Colon
17	chr5:119042200-119042400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:119042200-119042400	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:119042200-119044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:119042400-119042600	Flanking Active TSS	Colonic Mucosa	Colon
21	chr5:119042400-119042600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:119042400-119043600	Weak transcription	Lung	lung
23	chr5:119043600-119044200	Enhancers	Lung	lung
24	chr5:119044000-119044400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:119044200-119044400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:119046600-119047000	Enhancers	Right Ventricle	heart
27	chr5:119046800-119047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:119047200-119058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:119054200-119054600	Enhancers	Brain Anterior Caudate	brain
30	chr5:119054200-119054600	Enhancers	Brain Hippocampus Middle	brain

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