Variant report

Variant	nsv329660
Chromosome Location	chr5:53563734-53567735
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	chr5:53564738..53567480-chr5:53605362..53606959,2	MCF-7	breast:
2	chr5:53559955..53564468-chr5:53605059..53610685,5	K562	blood:
3	chr5:53561764..53565141-chr5:53605491..53608062,3	MCF-7	breast:
4	chr5:53566563..53569623-chr5:53569746..53572716,3	K562	blood:
5	chr5:53567065..53579931-chr5:53604839..53612520,32	K562	blood:
6	chr5:53557447..53559029-chr5:53562207..53564723,2	K562	blood:
7	chr5:53560197..53562309-chr5:53565817..53568937,3	K562	blood:
8	chr5:53566004..53568791-chr5:53604629..53607569,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185305	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13171504	chr5:53563769-53563770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574790053	chr5:53563793-53563794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542276657	chr5:53563801-53563802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563747879	chr5:53563880-53563881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201111136	chr5:53563914-53563915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575852515	chr5:53563917-53563918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543631613	chr5:53563941-53563942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200068857	chr5:53563953-53563954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565098062	chr5:53563972-53563973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374675323	chr5:53563979-53563980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187157320	chr5:53563992-53563993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547690443	chr5:53563994-53563995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559052986	chr5:53564084-53564085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs529627143	chr5:53564085-53564086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547810380	chr5:53564197-53564198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569409392	chr5:53564233-53564234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191024314	chr5:53564314-53564315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368897441	chr5:53564326-53564327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6883819	chr5:53564329-53564330	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534981107	chr5:53564347-53564348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11738636	chr5:53564369-53564370	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182128929	chr5:53564370-53564371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs186569615	chr5:53564404-53564405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs535844081	chr5:53564441-53564442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139062434	chr5:53564480-53564481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149881717	chr5:53564530-53564531	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546323210	chr5:53564556-53564557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558438575	chr5:53564566-53564567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7704492	chr5:53564582-53564583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182814366	chr5:53564602-53564603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540903339	chr5:53564652-53564653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559578491	chr5:53564714-53564715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529983682	chr5:53564803-53564804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs42459	chr5:53564893-53564894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs562956131	chr5:53564907-53564908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530479667	chr5:53564955-53564956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188284104	chr5:53564981-53564982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548007847	chr5:53564988-53564989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566532094	chr5:53565006-53565007	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570485958	chr5:53565021-53565022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs41151	chr5:53565054-53565055	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546922544	chr5:53565055-53565056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570798930	chr5:53565068-53565069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571623294	chr5:53565082-53565083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75842466	chr5:53565111-53565112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557345243	chr5:53565127-53565128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200527956	chr5:53565145-53565146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570675644	chr5:53565220-53565221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370395566	chr5:53565246-53565247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs569294755	chr5:53565264-53565265	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Congenital diaphragmatic hernia	21525063	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53537400-53575200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:53549400-53569800	Weak transcription	Fetal Intestine Small	intestine
3	chr5:53553600-53568600	Weak transcription	Primary T cells from cord blood	blood
4	chr5:53555000-53572400	Weak transcription	Right Ventricle	heart
5	chr5:53555400-53566200	Weak transcription	HMEC	breast
6	chr5:53555600-53575800	Weak transcription	Primary B cells from cord blood	blood
7	chr5:53556000-53567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:53558800-53575600	Weak transcription	Aorta	Aorta
9	chr5:53559800-53572200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:53560600-53569600	Weak transcription	Right Atrium	heart
11	chr5:53561000-53566000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:53562200-53567800	Weak transcription	Pancreas	Pancrea
13	chr5:53562400-53566200	Weak transcription	K562	blood
14	chr5:53562800-53566000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:53563000-53567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:53565400-53567400	Enhancers	Placenta	Placenta
17	chr5:53565600-53567000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:53565600-53575200	Weak transcription	Fetal Stomach	stomach
19	chr5:53566000-53567000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:53566000-53567600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:53566200-53566400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:53566200-53566600	Strong transcription	K562	blood
23	chr5:53566200-53567200	Enhancers	HMEC	breast
24	chr5:53566400-53568200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:53566600-53566800	Genic enhancers	K562	blood
26	chr5:53566800-53567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:53566800-53568000	Weak transcription	K562	blood
28	chr5:53567000-53568400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:53567000-53570800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:53567000-53572000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:53567200-53567600	Weak transcription	HMEC	breast
32	chr5:53567400-53567800	Weak transcription	Placenta	Placenta
33	chr5:53567400-53568200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:53567400-53568600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:53567600-53568200	Enhancers	HMEC	breast
36	chr5:53567600-53568600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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