Variant report

Variant	nsv525993
Chromosome Location	chr5:108288345-108299744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FER	hsa-miR-17-5p	chr5:108290430-108290434

Extended variants
information (count: 416 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3797821	chr5:108288345-108288346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576355122	chr5:108288357-108288358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553332300	chr5:108288383-108288384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567053959	chr5:108288400-108288401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538786651	chr5:108288403-108288404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558997072	chr5:108288408-108288409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138162909	chr5:108288427-108288428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544587221	chr5:108288480-108288481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554904137	chr5:108288482-108288483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73209360	chr5:108288483-108288484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543466253	chr5:108288499-108288500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566100976	chr5:108288538-108288539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78097802	chr5:108288579-108288580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182685034	chr5:108288582-108288583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532312337	chr5:108288590-108288591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73209361	chr5:108288612-108288613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76625049	chr5:108288621-108288622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569178971	chr5:108288647-108288648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531209697	chr5:108288662-108288663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186031107	chr5:108288684-108288685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190412732	chr5:108288703-108288704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577837497	chr5:108288725-108288726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199527084	chr5:108288726-108288727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368109562	chr5:108288765-108288766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182677671	chr5:108288887-108288888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78392994	chr5:108288903-108288904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187000456	chr5:108288905-108288906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192180821	chr5:108288911-108288912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559913087	chr5:108289068-108289069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527486541	chr5:108289073-108289074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72789310	chr5:108289092-108289093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188857890	chr5:108289112-108289113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538250649	chr5:108289113-108289114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193229740	chr5:108289169-108289170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142324752	chr5:108289199-108289200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558076102	chr5:108289218-108289219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147019504	chr5:108289231-108289232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560665020	chr5:108289234-108289235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199773927	chr5:108289254-108289255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554018927	chr5:108289313-108289314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576979735	chr5:108289319-108289320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549488097	chr5:108289326-108289327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545937090	chr5:108289337-108289338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184482994	chr5:108289342-108289343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78518560	chr5:108289414-108289415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575773867	chr5:108289464-108289465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541522813	chr5:108289465-108289466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77064223	chr5:108289467-108289468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114700029	chr5:108289516-108289517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138186721	chr5:108289547-108289548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
3	chr5:108230200-108302400	Weak transcription	HSMM	muscle
4	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:108268400-108301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:108270600-108289200	Weak transcription	K562	blood
8	chr5:108277600-108322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:108278000-108308200	Weak transcription	Fetal Kidney	kidney
10	chr5:108279000-108295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108279200-108302600	Weak transcription	Ovary	ovary
12	chr5:108279200-108325600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:108279800-108295200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:108281000-108302400	Weak transcription	Dnd41	blood
15	chr5:108281000-108302600	Weak transcription	HMEC	breast
16	chr5:108281000-108313400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:108281200-108302600	Weak transcription	Brain Angular Gyrus	brain
18	chr5:108281600-108296800	Weak transcription	Fetal Heart	heart
19	chr5:108282200-108324600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:108282400-108327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:108282800-108294800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:108283400-108289400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:108283400-108289400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:108283400-108319000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:108284000-108289400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:108286000-108289400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:108287800-108310000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:108289200-108290000	Enhancers	K562	blood
29	chr5:108289200-108309200	Weak transcription	Hela-S3	cervix
30	chr5:108289200-108318600	Weak transcription	NHDF-Ad	bronchial
31	chr5:108289400-108289800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:108289400-108290000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:108289400-108290000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:108289400-108290000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:108289600-108289800	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:108289600-108290000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:108289800-108290000	Enhancers	Aorta	Aorta
38	chr5:108289800-108290000	Enhancers	Esophagus	oesophagus
39	chr5:108290000-108291800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:108290000-108313600	Weak transcription	Aorta	Aorta
41	chr5:108290000-108322000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:108290000-108328800	Weak transcription	Esophagus	oesophagus
43	chr5:108292000-108292200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:108292600-108302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:108293400-108303400	Weak transcription	Fetal Lung	lung
46	chr5:108293400-108325600	Weak transcription	NHEK	skin
47	chr5:108294000-108302600	Weak transcription	Liver	Liver
48	chr5:108294200-108301200	Weak transcription	Fetal Brain Male	brain
49	chr5:108294400-108329400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:108294800-108295800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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