Variant report

Variant	esv3492568
Chromosome Location	chr5:61748939-61749800
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	chr5:61747217..61749290-chr5:61754763..61757506,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs247229	chr5:61749048-61749049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568690940	chr5:61749078-61749079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537745945	chr5:61749157-61749158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73760817	chr5:61749195-61749196	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201646794	chr5:61749207-61749208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75421342	chr5:61749223-61749224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546325137	chr5:61749279-61749280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374225708	chr5:61749373-61749374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553468938	chr5:61749386-61749387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573357911	chr5:61749436-61749437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529547347	chr5:61749437-61749438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547674657	chr5:61749451-61749452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55857500	chr5:61749464-61749465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188822904	chr5:61749474-61749475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560522541	chr5:61749488-61749489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75075322	chr5:61749534-61749535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543658928	chr5:61749569-61749570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186270740	chr5:61749594-61749595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149540	chr5:61749606-61749607	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs551871464	chr5:61749656-61749657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371564166	chr5:61749668-61749669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191217306	chr5:61749673-61749674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71608506	chr5:61749686-61749687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180825940	chr5:61749706-61749707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547828763	chr5:61749800-61749801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
3	chr5:61709800-61769000	Weak transcription	NH-A	brain
4	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:61722800-61770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:61728200-61752800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:61728400-61752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:61728400-61763400	Weak transcription	Pancreas	Pancrea
9	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
10	chr5:61728800-61763000	Weak transcription	Fetal Brain Female	brain
11	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:61729600-61752800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:61730000-61834200	Weak transcription	Gastric	stomach
14	chr5:61730800-61750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:61731800-61764000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:61732200-61753200	Weak transcription	NHLF	lung
17	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:61733200-61756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:61733600-61763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr5:61738800-61763000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:61739200-61763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:61739200-61763400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
24	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:61739800-61752600	Weak transcription	NHEK	skin
26	chr5:61739800-61752800	Weak transcription	HMEC	breast
27	chr5:61741600-61751200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:61741600-61753400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:61742000-61751200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:61742200-61754400	Weak transcription	Stomach Mucosa	stomach
31	chr5:61743000-61752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:61743000-61763400	Weak transcription	Brain Angular Gyrus	brain
33	chr5:61743600-61749000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:61743600-61753400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:61743800-61750800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:61744000-61749200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:61744000-61751000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:61744000-61752600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr5:61744600-61749200	Strong transcription	Adipose Nuclei	Adipose
40	chr5:61744600-61752800	Weak transcription	Brain Germinal Matrix	brain
41	chr5:61744600-61764000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
43	chr5:61745000-61751000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:61745400-61749600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr5:61745400-61749600	Strong transcription	K562	blood
46	chr5:61745600-61749400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:61745600-61749600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:61745600-61749600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:61745600-61751200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr5:61745600-61753600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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