Variant report

Variant	esv2763496
Chromosome Location	chr5:120061067-120071855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 290 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566653154	chr5:120061091-120061092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115157482	chr5:120061107-120061108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532385468	chr5:120061153-120061154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73265938	chr5:120061163-120061164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112716320	chr5:120061186-120061187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113028471	chr5:120061187-120061188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189969142	chr5:120061194-120061195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6872181	chr5:120061207-120061208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542636157	chr5:120061318-120061319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372784899	chr5:120061340-120061341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140734933	chr5:120061346-120061347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540026609	chr5:120061417-120061418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149792598	chr5:120061421-120061422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532236986	chr5:120061459-120061460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73265939	chr5:120061471-120061472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562491103	chr5:120061552-120061553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145779107	chr5:120061565-120061566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548576423	chr5:120061624-120061625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182886219	chr5:120061635-120061636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148454739	chr5:120061642-120061643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552762487	chr5:120061656-120061657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571046870	chr5:120061667-120061668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1839247	chr5:120061697-120061698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142591623	chr5:120061698-120061699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552699097	chr5:120061705-120061706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187437434	chr5:120061715-120061716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111600838	chr5:120061763-120061764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141079261	chr5:120061789-120061790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34406740	chr5:120061820-120061821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112332154	chr5:120061832-120061833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1839246	chr5:120061858-120061859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs193298926	chr5:120061861-120061862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114565841	chr5:120061884-120061885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544034839	chr5:120061888-120061889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562603840	chr5:120061897-120061898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530021650	chr5:120061978-120061979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183818658	chr5:120061986-120061987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560545716	chr5:120062003-120062004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112046538	chr5:120062014-120062015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187624945	chr5:120062038-120062039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570985663	chr5:120062124-120062125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116555157	chr5:120062136-120062137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534604205	chr5:120062142-120062143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568633522	chr5:120062169-120062170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192056985	chr5:120062253-120062254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554228669	chr5:120062268-120062269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144907666	chr5:120062289-120062290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78997447	chr5:120062315-120062316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184418265	chr5:120062388-120062389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146659361	chr5:120062432-120062433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120045800-120061600	Weak transcription	HSMM	muscle
2	chr5:120060800-120063200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:120061000-120061200	Enhancers	Aorta	Aorta
4	chr5:120061000-120062400	Enhancers	Brain Germinal Matrix	brain
5	chr5:120061200-120067000	Weak transcription	Aorta	Aorta
6	chr5:120061600-120062200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:120061600-120062600	Enhancers	HSMM	muscle
8	chr5:120061800-120062200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:120061800-120062400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:120064800-120065000	Enhancers	HSMM	muscle
11	chr5:120069600-120070200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:120069600-120070200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:120069600-120070200	Enhancers	HSMMtube	muscle
14	chr5:120069600-120070800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:120069600-120071000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:120069600-120071000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:120069600-120071000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:120069800-120070200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:120069800-120070200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:120070400-120071000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:120071800-120072200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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