Variant report

Variant	nsv965525
Chromosome Location	chr5:54010194-54018240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:54017315..54018938-chr5:54030399..54032584,2	K562	blood:
2	chr5:54014462..54016849-chr5:54037550..54040142,2	K562	blood:
3	chr5:54006092..54008059-chr5:54009964..54011827,2	K562	blood:
4	chr5:54017504..54021673-chr5:54022029..54028384,8	K562	blood:
5	chr5:54013909..54016441-chr5:54127667..54129605,2	K562	blood:
6	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:
7	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:
8	chr5:54018088..54021349-chr5:54022983..54028263,5	K562	blood:

No data

Extended variants
information (count: 310 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114680131	chr5:54010204-54010205	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550614665	chr5:54010229-54010230	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530261860	chr5:54010303-54010304	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150826924	chr5:54010338-54010339	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539719782	chr5:54010346-54010347	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551428592	chr5:54010358-54010359	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58082608	chr5:54010422-54010423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555812737	chr5:54010473-54010474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16883342	chr5:54010478-54010479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs534987617	chr5:54010481-54010482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574163256	chr5:54010482-54010483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538401025	chr5:54010498-54010499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556602542	chr5:54010581-54010582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577945705	chr5:54010590-54010591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73755233	chr5:54010621-54010622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560160234	chr5:54010622-54010623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143938219	chr5:54010627-54010628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191401322	chr5:54010663-54010664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561397675	chr5:54010674-54010675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368980918	chr5:54010675-54010676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147398946	chr5:54010741-54010742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74569857	chr5:54010771-54010772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562524757	chr5:54010820-54010821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139629354	chr5:54010860-54010861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551701512	chr5:54010863-54010864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566480554	chr5:54010872-54010873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527243656	chr5:54010938-54010939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149936899	chr5:54010962-54010963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567328015	chr5:54010976-54010977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79946655	chr5:54011005-54011006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546069305	chr5:54011017-54011018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556752152	chr5:54011035-54011036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571503820	chr5:54011120-54011121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13161514	chr5:54011127-54011128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs554002259	chr5:54011139-54011140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144095351	chr5:54011156-54011157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542977436	chr5:54011177-54011178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183722927	chr5:54011275-54011276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576511885	chr5:54011282-54011283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543539591	chr5:54011286-54011287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4376219	chr5:54011289-54011290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372238492	chr5:54011328-54011329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533116581	chr5:54011381-54011382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576930792	chr5:54011386-54011387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545333526	chr5:54011391-54011392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375410218	chr5:54011408-54011409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13184145	chr5:54011443-54011444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556667854	chr5:54011450-54011451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561412807	chr5:54011504-54011505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373087028	chr5:54011514-54011515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
abnormal development	18461090	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54009000-54010600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:54009200-54010200	Enhancers	Stomach Mucosa	stomach
3	chr5:54009400-54010600	Enhancers	Aorta	Aorta
4	chr5:54009400-54010600	Enhancers	Osteobl	bone
5	chr5:54009400-54011600	Enhancers	Gastric	stomach
6	chr5:54009400-54011800	Enhancers	Fetal Heart	heart
7	chr5:54009400-54012000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:54009400-54012200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:54009600-54010200	Enhancers	Fetal Intestine Small	intestine
10	chr5:54009800-54010200	Enhancers	Adipose Nuclei	Adipose
11	chr5:54009800-54010600	Enhancers	Fetal Lung	lung
12	chr5:54009800-54010600	Enhancers	NHLF	lung
13	chr5:54010000-54010200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:54010000-54010200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:54010000-54011200	Weak transcription	Right Atrium	heart
16	chr5:54010200-54010400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:54010200-54010600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:54010200-54010600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:54010200-54011200	Weak transcription	Stomach Mucosa	stomach
20	chr5:54010200-54014400	Weak transcription	Adipose Nuclei	Adipose
21	chr5:54010400-54011000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:54010400-54011400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:54010400-54011600	Enhancers	Right Ventricle	heart
24	chr5:54010600-54011400	Enhancers	Left Ventricle	heart
25	chr5:54010600-54014200	Weak transcription	Fetal Lung	lung
26	chr5:54010600-54014400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:54010600-54014400	Weak transcription	NHLF	lung
28	chr5:54010600-54014400	Weak transcription	Osteobl	bone
29	chr5:54010600-54015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:54010600-54016600	Weak transcription	Aorta	Aorta
31	chr5:54011000-54014600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:54011200-54011600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:54011200-54011600	Enhancers	Right Atrium	heart
34	chr5:54011200-54011600	Enhancers	Stomach Mucosa	stomach
35	chr5:54011400-54014400	Weak transcription	Left Ventricle	heart
36	chr5:54011400-54014600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:54011600-54014400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:54011600-54014400	Weak transcription	Right Atrium	heart
39	chr5:54011600-54015000	Weak transcription	Right Ventricle	heart
40	chr5:54011600-54016400	Weak transcription	Gastric	stomach
41	chr5:54011800-54013200	Weak transcription	Fetal Heart	heart
42	chr5:54012000-54014400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:54012800-54014000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:54013000-54013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:54013000-54013600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:54013000-54013800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:54013000-54014000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr5:54013000-54014400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:54013200-54014000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:54013200-54014000	Enhancers	Primary T helper cells PMA-I stimulated	--

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