Variant report

Variant	nsv4830
Chromosome Location	chr5:53420470-53441607
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:53429696..53432920-chr5:53605209..53609197,3	K562	blood:
2	chr5:53436637..53438347-chr5:53604881..53606791,2	K562	blood:
3	chr5:53414419..53416796-chr5:53420283..53421795,2	MCF-7	breast:
4	chr5:53425532..53428018-chr5:53431677..53433643,2	K562	blood:
5	chr5:53414031..53418111-chr5:53418670..53421510,3	K562	blood:
6	chr5:53399759..53401974-chr5:53428344..53430951,2	MCF-7	breast:
7	chr5:53436485..53438347-chr5:53605113..53606791,2	K562	blood:
8	chr5:53414031..53416832-chr5:53418670..53420660,2	K562	blood:
9	chr5:53425532..53428018-chr5:53431677..53433643,2	K562	blood:
10	chr5:53413797..53417195-chr5:53423854..53425574,3	MCF-7	breast:
11	chr5:53432302..53435265-chr5:53439876..53442198,2	MCF-7	breast:
12	chr5:53416825..53418882-chr5:53422697..53424495,2	MCF-7	breast:
13	chr5:53430922..53432920-chr5:53605209..53608004,3	K562	blood:
14	chr5:53441409..53443058-chr5:53445412..53448218,2	K562	blood:
15	chr5:53384687..53387380-chr5:53439690..53441748,2	MCF-7	breast:
16	chr5:53432302..53435265-chr5:53439876..53442198,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185305	chromatin interactions

Extended variants
information (count: 819 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571252061	chr5:53420480-53420481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538671084	chr5:53420487-53420488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189015544	chr5:53420488-53420489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572192413	chr5:53420490-53420491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531338841	chr5:53420491-53420492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536817323	chr5:53420566-53420567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144402106	chr5:53420582-53420583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs700915	chr5:53420634-53420635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543755344	chr5:53420703-53420704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549760316	chr5:53420784-53420785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565608387	chr5:53420789-53420790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192122014	chr5:53420839-53420840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541051004	chr5:53420841-53420842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151208312	chr5:53420844-53420845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530145771	chr5:53420874-53420875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112553669	chr5:53420895-53420896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59567228	chr5:53420910-53420911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs67422656	chr5:53420915-53420916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375731052	chr5:53420919-53420920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7711617	chr5:53420920-53420921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144878105	chr5:53420925-53420926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs70986660	chr5:53420929-53420930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187623374	chr5:53420959-53420960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571591282	chr5:53421060-53421061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542109676	chr5:53421084-53421085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538608101	chr5:53421112-53421113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547431324	chr5:53421143-53421144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565739672	chr5:53421153-53421154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535967811	chr5:53421155-53421156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149027298	chr5:53421156-53421157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576545620	chr5:53421170-53421171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537681574	chr5:53421171-53421172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558797565	chr5:53421200-53421201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144622698	chr5:53421208-53421209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572022759	chr5:53421249-53421250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34952881	chr5:53421266-53421267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547503517	chr5:53421283-53421284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574541746	chr5:53421291-53421292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565758538	chr5:53421302-53421303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138582656	chr5:53421362-53421363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563837515	chr5:53421373-53421374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564206950	chr5:53421393-53421394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78842441	chr5:53421395-53421396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145745915	chr5:53421415-53421416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192847428	chr5:53421440-53421441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565139085	chr5:53421441-53421442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148142253	chr5:53421486-53421487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182758223	chr5:53421508-53421509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533612469	chr5:53421519-53421520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546107467	chr5:53421535-53421536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53409200-53448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:53409200-53465600	Weak transcription	Fetal Intestine Large	intestine
3	chr5:53409400-53423800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:53409600-53441200	Weak transcription	Primary B cells from cord blood	blood
5	chr5:53420200-53422800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:53424400-53433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:53425400-53467200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:53426600-53442400	Weak transcription	Left Ventricle	heart
9	chr5:53428000-53471600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:53429200-53429400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:53429200-53429400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:53429200-53429400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:53429200-53429400	Enhancers	Pancreas	Pancrea
14	chr5:53429200-53429800	Enhancers	K562	blood
15	chr5:53429400-53433000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:53429400-53455800	Weak transcription	Fetal Intestine Small	intestine
17	chr5:53429600-53429800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:53429600-53432800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:53429600-53434000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:53429800-53430200	Genic enhancers	K562	blood
21	chr5:53429800-53431600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:53429800-53432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:53430000-53430200	Enhancers	Colon Smooth Muscle	Colon
24	chr5:53430000-53446600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr5:53430200-53430800	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:53430200-53445400	Weak transcription	K562	blood
27	chr5:53430600-53430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:53430600-53430800	Enhancers	Right Atrium	heart
29	chr5:53430600-53431400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:53430600-53431400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:53430600-53441200	Weak transcription	Primary T cells from cord blood	blood
32	chr5:53430800-53431400	Enhancers	NH-A	brain
33	chr5:53430800-53432800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:53430800-53433200	Enhancers	Fetal Stomach	stomach
35	chr5:53430800-53433400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:53431000-53431400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:53431000-53431400	Enhancers	HMEC	breast
38	chr5:53431000-53431800	Enhancers	Fetal Lung	lung
39	chr5:53431000-53431800	Enhancers	Rectal Smooth Muscle	rectum
40	chr5:53431000-53431800	Enhancers	NHDF-Ad	bronchial
41	chr5:53431000-53433000	Weak transcription	Right Atrium	heart
42	chr5:53431200-53433200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:53431400-53432600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:53431600-53431800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:53431600-53431800	Enhancers	Fetal Muscle Leg	muscle
46	chr5:53431600-53432000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:53431800-53432800	Weak transcription	Fetal Lung	lung
48	chr5:53431800-53432800	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:53431800-53433000	Weak transcription	NHDF-Ad	bronchial
50	chr5:53431800-53433200	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links