Variant report

Variant	esv3523121
Chromosome Location	chr5:61747893-61749430
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:
2	chr5:61741039..61743248-chr5:61746632..61748600,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187993685	chr5:61747897-61747898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559780986	chr5:61747928-61747929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527625571	chr5:61748000-61748001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547675496	chr5:61748014-61748015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192224840	chr5:61748043-61748044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185861153	chr5:61748059-61748060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527767981	chr5:61748066-61748067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576253321	chr5:61748076-61748077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544304049	chr5:61748091-61748092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114765816	chr5:61748098-61748099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141660201	chr5:61748103-61748104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538720759	chr5:61748179-61748180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190347642	chr5:61748199-61748200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114307464	chr5:61748261-61748262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200978870	chr5:61748285-61748286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115277896	chr5:61748326-61748327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139447606	chr5:61748361-61748362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531847105	chr5:61748367-61748368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115145597	chr5:61748394-61748395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557509497	chr5:61748401-61748402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577314863	chr5:61748428-61748429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375643039	chr5:61748429-61748430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138539006	chr5:61748489-61748490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368643793	chr5:61748490-61748491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143624084	chr5:61748499-61748500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58112364	chr5:61748513-61748514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60490419	chr5:61748514-61748515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199510061	chr5:61748532-61748533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369316318	chr5:61748534-61748535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147037282	chr5:61748551-61748552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546311150	chr5:61748552-61748553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202174887	chr5:61748554-61748555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181747378	chr5:61748569-61748570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57057274	chr5:61748579-61748580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397882889	chr5:61748583-61748584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs247228	chr5:61748585-61748586	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs567834121	chr5:61748586-61748587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535142531	chr5:61748590-61748591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541352606	chr5:61748591-61748592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561201467	chr5:61748624-61748625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529978751	chr5:61748663-61748664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35601233	chr5:61748715-61748716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs247477	chr5:61748766-61748767	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184340903	chr5:61748788-61748789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532115071	chr5:61748885-61748886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551806949	chr5:61748893-61748894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369616245	chr5:61748896-61748897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16890754	chr5:61748912-61748913	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149239278	chr5:61748931-61748932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs247229	chr5:61749048-61749049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:170 , 50 per page) page: 1 2 3 4

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	chr5:61728400-61748200	Weak transcription	Lung	lung
8	chr5:61728400-61752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:61728400-61763400	Weak transcription	Pancreas	Pancrea
10	chr5:61728400-61807600	Weak transcription	Psoas Muscle	Psoas
11	chr5:61728800-61748200	Weak transcription	Fetal Lung	lung
12	chr5:61728800-61763000	Weak transcription	Fetal Brain Female	brain
13	chr5:61728800-61838200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:61729600-61752800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:61730000-61748000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:61730000-61834200	Weak transcription	Gastric	stomach
17	chr5:61730800-61750200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:61731800-61764000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:61732200-61753200	Weak transcription	NHLF	lung
20	chr5:61732800-61805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:61733200-61756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:61733600-61763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:61738800-61763000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:61739200-61763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:61739200-61763400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
27	chr5:61739600-61787800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:61739800-61752600	Weak transcription	NHEK	skin
29	chr5:61739800-61752800	Weak transcription	HMEC	breast
30	chr5:61741600-61751200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:61741600-61753400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:61742000-61751200	Weak transcription	Colon Smooth Muscle	Colon
33	chr5:61742200-61754400	Weak transcription	Stomach Mucosa	stomach
34	chr5:61743000-61752800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:61743000-61763400	Weak transcription	Brain Angular Gyrus	brain
36	chr5:61743600-61749000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:61743600-61753400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:61743800-61750800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:61744000-61748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:61744000-61749200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr5:61744000-61751000	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:61744000-61752600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr5:61744400-61748600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:61744600-61748000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:61744600-61749200	Strong transcription	Adipose Nuclei	Adipose
46	chr5:61744600-61752800	Weak transcription	Brain Germinal Matrix	brain
47	chr5:61744600-61764000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:61744800-61838600	Weak transcription	Colonic Mucosa	Colon
49	chr5:61745000-61751000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:61745400-61749600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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