Variant report

Variant	nsv981024
Chromosome Location	chr5:96992487-96996964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559157409	chr5:96992857-96992858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577647391	chr5:96992903-96992904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544639139	chr5:96992925-96992926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187369685	chr5:96992940-96992941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367896840	chr5:96992957-96992958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530764205	chr5:96992964-96992965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386690305	chr5:96992969-96992970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201277945	chr5:96992971-96992972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6556995	chr5:96992975-96992976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560760382	chr5:96993003-96993004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142585852	chr5:96993011-96993012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192333088	chr5:96993059-96993060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17087681	chr5:96993093-96993094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539104053	chr5:96993101-96993102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183331119	chr5:96993111-96993112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569270952	chr5:96993214-96993215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187758634	chr5:96993294-96993295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77726451	chr5:96993327-96993328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573407795	chr5:96993363-96993364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534158394	chr5:96993402-96993403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559092114	chr5:96993410-96993411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34654313	chr5:96993462-96993463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192433249	chr5:96993502-96993503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113810155	chr5:96993505-96993506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562951608	chr5:96993529-96993530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574854209	chr5:96993587-96993588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542530691	chr5:96993619-96993620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560994703	chr5:96993644-96993645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75378083	chr5:96993737-96993738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546509625	chr5:96993770-96993771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565079034	chr5:96993814-96993815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57472041	chr5:96993817-96993818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551047942	chr5:96993819-96993820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184826802	chr5:96993822-96993823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569282554	chr5:96993919-96993920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566892358	chr5:96993993-96993994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536613865	chr5:96993994-96993995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112271619	chr5:96994029-96994030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567087801	chr5:96994069-96994070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539924384	chr5:96994146-96994147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375496250	chr5:96994150-96994151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150094160	chr5:96994201-96994202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373363968	chr5:96994254-96994255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577323711	chr5:96994276-96994277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538359317	chr5:96994322-96994323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556606447	chr5:96994334-96994335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574917491	chr5:96994363-96994364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138398895	chr5:96994369-96994370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554532176	chr5:96994375-96994376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200667117	chr5:96994397-96994398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96992800-96994800	Enhancers	HUVEC	blood vessel
2	chr5:96993000-96993400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:96993000-96993600	Enhancers	Adipose Nuclei	Adipose
4	chr5:96993000-96994600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:96993400-96993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:96993600-96994600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:96993800-96994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:96993800-96994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:96994000-96994400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:96994000-96994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:96994000-96996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:96994200-96994600	Enhancers	Liver	Liver
13	chr5:96994600-96994800	Enhancers	Adipose Nuclei	Adipose

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