Variant report

Variant	nsv964783
Chromosome Location	chr5:94407585-94410395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577154614	chr5:94407650-94407651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148979544	chr5:94407703-94407704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559374127	chr5:94407712-94407713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112340560	chr5:94407718-94407719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528279477	chr5:94407758-94407759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183272364	chr5:94407763-94407764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149752918	chr5:94407785-94407786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56135843	chr5:94407817-94407818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561667416	chr5:94407841-94407842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186179885	chr5:94407846-94407847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550834051	chr5:94407850-94407851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570391186	chr5:94407876-94407877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539418073	chr5:94407892-94407893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145834665	chr5:94408125-94408126	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566534602	chr5:94408141-94408142	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535247045	chr5:94408143-94408144	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555173383	chr5:94408174-94408175	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574955992	chr5:94408229-94408230	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537380175	chr5:94408249-94408250	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557629558	chr5:94408266-94408267	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200290633	chr5:94408318-94408319	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374307427	chr5:94408347-94408348	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191750589	chr5:94408408-94408409	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72779419	chr5:94408419-94408420	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572973567	chr5:94408422-94408423	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371619409	chr5:94408444-94408445	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11421165	chr5:94408466-94408467	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541898215	chr5:94408481-94408482	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575217134	chr5:94408510-94408511	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376142019	chr5:94408511-94408512	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546429489	chr5:94408519-94408520	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113871631	chr5:94408539-94408540	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183142705	chr5:94408543-94408544	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530720564	chr5:94408550-94408551	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28718656	chr5:94408595-94408596	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564360900	chr5:94408597-94408598	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532799721	chr5:94408608-94408609	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546585113	chr5:94408609-94408610	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575935008	chr5:94408621-94408622	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566597141	chr5:94408624-94408625	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529029072	chr5:94408650-94408651	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549086651	chr5:94408651-94408652	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546273360	chr5:94408654-94408655	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145369415	chr5:94408670-94408671	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537602360	chr5:94408680-94408681	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557376977	chr5:94408684-94408685	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571088042	chr5:94408685-94408686	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539466767	chr5:94408692-94408693	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552977913	chr5:94408695-94408696	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563064295	chr5:94408715-94408716	Weak transcription Enhancers Genic enhancers	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
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94399800-94411400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:94403400-94408000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:94404000-94407600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:94404600-94416200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:94404800-94412200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:94404800-94414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:94406000-94409200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:94406200-94408000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:94406600-94412000	Weak transcription	Brain Anterior Caudate	brain
10	chr5:94406600-94413600	Weak transcription	Dnd41	blood
11	chr5:94406600-94415800	Weak transcription	Fetal Stomach	stomach
12	chr5:94406800-94410000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:94406800-94410600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:94407000-94408000	Weak transcription	HUVEC	blood vessel
15	chr5:94407000-94408200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:94407000-94408800	Enhancers	GM12878-XiMat	blood
17	chr5:94407000-94409000	Weak transcription	Lung	lung
18	chr5:94407000-94410600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:94407000-94412200	Weak transcription	Adipose Nuclei	Adipose
20	chr5:94407000-94417200	Weak transcription	Gastric	stomach
21	chr5:94407000-94423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:94407400-94407600	Enhancers	Primary B cells from cord blood	blood
23	chr5:94407600-94410400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:94407600-94415600	Weak transcription	Primary B cells from cord blood	blood
25	chr5:94408000-94408200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:94408000-94409200	Genic enhancers	HUVEC	blood vessel
27	chr5:94408000-94410400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:94408000-94411600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr5:94408200-94410400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:94408800-94409400	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:94409200-94409600	Strong transcription	HUVEC	blood vessel
32	chr5:94409400-94410000	Enhancers	GM12878-XiMat	blood
33	chr5:94409600-94410800	Weak transcription	HUVEC	blood vessel
34	chr5:94410000-94411000	Flanking Active TSS	GM12878-XiMat	blood
35	chr5:94410000-94414200	Enhancers	Primary hematopoietic stem cells	blood

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