Variant report

Variant	esv3380024
Chromosome Location	chr5:52964995-52968293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52964952..52966941-chr5:52970691..52973643,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FST-1	chr5:52967196-52968051	ENSG00000248194
2	lnc-FST-1	chr5:52965911-52967033	ENSG00000248194

Variant related genes	Relation type
CDKN1B	miRNA target sites
IPO5	miRNA target sites

Extended variants
information (count: 109 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142904798	chr5:52965000-52965001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377478341	chr5:52965001-52965002	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191798644	chr5:52965041-52965042	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537047400	chr5:52965096-52965097	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576330428	chr5:52965116-52965117	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370682483	chr5:52965122-52965123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4147737	chr5:52965136-52965137	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570672915	chr5:52965138-52965139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12515547	chr5:52965231-52965232	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552923333	chr5:52965249-52965250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146918244	chr5:52965251-52965252	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114781143	chr5:52965254-52965255	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552946813	chr5:52965270-52965271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556931617	chr5:52965339-52965340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572377338	chr5:52965359-52965360	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575193744	chr5:52965376-52965377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545801113	chr5:52965411-52965412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564767140	chr5:52965419-52965420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs137927883	chr5:52965485-52965486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540798654	chr5:52965497-52965498	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200098464	chr5:52965519-52965520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373110826	chr5:52965520-52965521	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184127857	chr5:52965546-52965547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12522533	chr5:52965574-52965575	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs77327270	chr5:52965591-52965592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563948053	chr5:52965604-52965605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563382736	chr5:52965607-52965608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530485945	chr5:52965663-52965664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552226004	chr5:52965664-52965665	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149474229	chr5:52965719-52965720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141593059	chr5:52965731-52965732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570705737	chr5:52965874-52965875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534648025	chr5:52965927-52965928	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs143942528	chr5:52965960-52965961	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535151381	chr5:52966077-52966078	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs148645389	chr5:52966147-52966148	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs568207663	chr5:52966151-52966152	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187482976	chr5:52966155-52966156	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs556993099	chr5:52966246-52966247	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs142516156	chr5:52966265-52966266	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs141519873	chr5:52966280-52966281	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539419595	chr5:52966321-52966322	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs557895250	chr5:52966338-52966339	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs35746031	chr5:52966360-52966361	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs552823680	chr5:52966363-52966364	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs140428140	chr5:52966451-52966452	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs374502277	chr5:52966452-52966453	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs35981420	chr5:52966530-52966531	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540616714	chr5:52966557-52966558	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs575978842	chr5:52966630-52966631	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	18641027	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52904400-52966600	Weak transcription	Osteobl	bone
2	chr5:52920800-52978800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:52929000-52981800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:52935200-52978000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:52938200-52970200	Weak transcription	NH-A	brain
6	chr5:52938400-52967600	Weak transcription	Fetal Kidney	kidney
7	chr5:52938600-52971000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:52940000-52982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:52941400-52980200	Weak transcription	HepG2	liver
10	chr5:52941400-52985200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:52942400-52973400	Weak transcription	Fetal Heart	heart
12	chr5:52944000-52969800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:52944200-52968200	Weak transcription	K562	blood
14	chr5:52945400-52974600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:52945400-52979000	Weak transcription	HMEC	breast
16	chr5:52945400-52980200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:52945400-52980800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:52945400-52981000	Weak transcription	Psoas Muscle	Psoas
19	chr5:52945400-52985000	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:52945600-52965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:52945600-52971600	Weak transcription	Fetal Lung	lung
22	chr5:52945600-52978400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:52945600-52980800	Weak transcription	GM12878-XiMat	blood
24	chr5:52945600-52981600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:52945600-52983000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:52945600-52983600	Weak transcription	Fetal Thymus	thymus
27	chr5:52946800-52981400	Weak transcription	NHEK	skin
28	chr5:52955800-52967200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:52955800-52982200	Weak transcription	Dnd41	blood
30	chr5:52956000-52965200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:52956000-52965200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:52956000-52982600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:52961200-52965600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:52961200-52974800	Weak transcription	HSMMtube	muscle
35	chr5:52961400-52970200	Weak transcription	Placenta	Placenta
36	chr5:52961600-52965400	Strong transcription	Primary B cells from cord blood	blood
37	chr5:52961600-52967000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:52961600-52967000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:52961600-52967600	Weak transcription	Thymus	Thymus
40	chr5:52961600-52975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:52961600-52978800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:52961600-52984200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:52961800-52967600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:52961800-52968800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:52961800-52978200	Weak transcription	Left Ventricle	heart
46	chr5:52961800-52978800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:52961800-52979800	Weak transcription	Aorta	Aorta
48	chr5:52961800-52979800	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:52961800-52989200	Weak transcription	Ovary	ovary
50	chr5:52962200-52978200	Weak transcription	Liver	Liver

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