Variant report

Variant	nsv598175
Chromosome Location	chr5:53213945-53230760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53214495..53217500-chr5:53221900..53224479,3	K562	blood:
2	chr5:53213246..53216350-chr5:53221900..53224479,3	K562	blood:
3	chr5:53214495..53217500-chr5:53221900..53224479,3	K562	blood:
4	chr5:53213246..53216350-chr5:53221900..53224479,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOCS2-7	chr5:53215531-53215884	expReg_chr5_1894_-

Extended variants
information (count: 621 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11741356	chr5:53213945-53213946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs550604456	chr5:53213970-53213971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150873839	chr5:53213972-53213973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112974035	chr5:53214011-53214012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116425756	chr5:53214068-53214069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374770586	chr5:53214129-53214130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367903191	chr5:53214172-53214173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534312730	chr5:53214186-53214187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563227041	chr5:53214205-53214206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555800098	chr5:53214207-53214208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189926691	chr5:53214208-53214209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115628310	chr5:53214212-53214213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556628669	chr5:53214310-53214311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577906020	chr5:53214357-53214358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181367769	chr5:53214390-53214391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531259343	chr5:53214392-53214393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185219439	chr5:53214422-53214423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553924502	chr5:53214423-53214424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139379496	chr5:53214426-53214427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539967864	chr5:53214428-53214429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190150307	chr5:53214508-53214509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150060729	chr5:53214529-53214530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544185315	chr5:53214535-53214536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181207968	chr5:53214556-53214557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562672940	chr5:53214573-53214574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147517455	chr5:53214593-53214594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181856276	chr5:53214614-53214615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560507382	chr5:53214616-53214617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147745904	chr5:53214620-53214621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3839230	chr5:53214660-53214661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs33988544	chr5:53214661-53214662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34527329	chr5:53214670-53214671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566686539	chr5:53214685-53214686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140670591	chr5:53214735-53214736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60633530	chr5:53214737-53214738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs113648830	chr5:53214785-53214786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373872052	chr5:53214837-53214838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567748180	chr5:53214878-53214879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374497872	chr5:53214883-53214884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74693525	chr5:53214906-53214907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546376820	chr5:53214987-53214988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16881846	chr5:53214996-53214997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76982257	chr5:53215005-53215006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554010421	chr5:53215026-53215027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112688818	chr5:53215033-53215034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77462833	chr5:53215048-53215049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555211202	chr5:53215049-53215050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573663909	chr5:53215051-53215052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367643880	chr5:53215073-53215074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202050848	chr5:53215076-53215077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:53187600-53232800	Weak transcription	Primary T cells from cord blood	blood
3	chr5:53189800-53216600	Weak transcription	Left Ventricle	heart
4	chr5:53200800-53251600	Weak transcription	Primary B cells from cord blood	blood
5	chr5:53206800-53236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:53208200-53215000	Weak transcription	Fetal Brain Female	brain
7	chr5:53212800-53214000	Enhancers	K562	blood
8	chr5:53213000-53214000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:53213400-53214200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:53213400-53215400	Enhancers	Fetal Brain Male	brain
11	chr5:53213400-53219000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:53213600-53219800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr5:53213600-53220200	Weak transcription	HSMM	muscle
14	chr5:53213800-53214800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:53213800-53215000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:53213800-53218800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:53213800-53219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:53213800-53219800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:53213800-53220200	Weak transcription	Fetal Stomach	stomach
20	chr5:53213800-53225600	Weak transcription	Fetal Intestine Large	intestine
21	chr5:53213800-53235200	Weak transcription	Fetal Intestine Small	intestine
22	chr5:53214000-53238600	Weak transcription	K562	blood
23	chr5:53215000-53215200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:53215000-53215400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:53215000-53215600	Enhancers	Fetal Brain Female	brain
26	chr5:53215400-53215600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:53215400-53215600	Enhancers	Fetal Muscle Leg	muscle
28	chr5:53215600-53220400	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:53215600-53223400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:53216600-53216800	Enhancers	Left Ventricle	heart
31	chr5:53216800-53221200	Weak transcription	Left Ventricle	heart
32	chr5:53217000-53230400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:53217200-53220400	Weak transcription	Small Intestine	intestine
34	chr5:53217200-53244800	Weak transcription	Pancreas	Pancrea
35	chr5:53217800-53222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:53218000-53218200	Enhancers	Fetal Kidney	kidney
37	chr5:53218200-53219800	Weak transcription	Fetal Kidney	kidney
38	chr5:53218400-53218600	Enhancers	Spleen	Spleen
39	chr5:53218400-53219000	Enhancers	Dnd41	blood
40	chr5:53218600-53219200	Enhancers	GM12878-XiMat	blood
41	chr5:53218600-53219800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:53218800-53219400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:53218800-53223000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:53219000-53220600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:53219000-53220800	Enhancers	Colon Smooth Muscle	Colon
46	chr5:53219400-53220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:53219800-53220200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:53219800-53220200	Weak transcription	NHDF-Ad	bronchial
49	chr5:53219800-53220400	Active TSS	Stomach Smooth Muscle	stomach
50	chr5:53219800-53220600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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