Variant report

Variant	esv2591326
Chromosome Location	chr5:61882149-61883525
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61881611..61886681-chr5:61887454..61890458,4	K562	blood:
2	chr5:61882277..61887456-chr5:61887734..61891517,4	K562	blood:
3	chr5:61881015..61883459-chr5:61884759..61886658,3	K562	blood:
4	chr5:61875725..61878816-chr5:61880010..61882591,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183616868	chr5:61882155-61882156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs573622842	chr5:61882198-61882199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564241974	chr5:61882219-61882220	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs371276750	chr5:61882232-61882233	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs147863025	chr5:61882251-61882252	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs531736763	chr5:61882285-61882286	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs562871287	chr5:61882296-61882297	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs189558386	chr5:61882320-61882321	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs59587111	chr5:61882324-61882325	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs565156997	chr5:61882401-61882402	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527832429	chr5:61882408-61882409	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547878452	chr5:61882449-61882450	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs918628	chr5:61882534-61882535	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568150459	chr5:61882587-61882588	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71617440	chr5:61882592-61882593	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs67448508	chr5:61882594-61882595	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56808416	chr5:61882595-61882596	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372122236	chr5:61882597-61882598	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536695360	chr5:61882676-61882677	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193221956	chr5:61882781-61882782	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185317765	chr5:61882804-61882805	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201182611	chr5:61882807-61882808	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538165207	chr5:61882908-61882909	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548172746	chr5:61882919-61882920	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369258116	chr5:61882976-61882977	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552096662	chr5:61882977-61882978	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148859149	chr5:61883009-61883010	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571479322	chr5:61883033-61883034	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560324723	chr5:61883056-61883057	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529266021	chr5:61883101-61883102	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547795165	chr5:61883114-61883115	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553878699	chr5:61883147-61883148	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573632969	chr5:61883189-61883190	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560623196	chr5:61883208-61883209	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369313256	chr5:61883310-61883311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536446346	chr5:61883393-61883394	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73108086	chr5:61883402-61883403	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545115093	chr5:61883432-61883433	Weak transcription Strong transcription Enhancers	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
2	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
3	chr5:61793600-61905000	Weak transcription	NHEK	skin
4	chr5:61796800-61899000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:61802600-61889000	Weak transcription	NH-A	brain
6	chr5:61803000-61904400	Weak transcription	Fetal Kidney	kidney
7	chr5:61815200-61890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:61827200-61883600	Weak transcription	HepG2	liver
9	chr5:61827400-61899200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:61828200-61886800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:61834800-61899200	Weak transcription	Esophagus	oesophagus
12	chr5:61846600-61888400	Weak transcription	Gastric	stomach
13	chr5:61848200-61939600	Weak transcription	Brain Anterior Caudate	brain
14	chr5:61849600-61888800	Weak transcription	A549	lung
15	chr5:61856400-61888800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:61856400-61906400	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:61856800-61884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:61857200-61889000	Weak transcription	HSMM	muscle
19	chr5:61861400-61902600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:61862200-61902600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:61863200-61884600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:61863200-61888600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:61863200-61910200	Weak transcription	Right Ventricle	heart
24	chr5:61863400-61888400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:61864000-61887400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:61864000-61887400	Weak transcription	Fetal Lung	lung
27	chr5:61864000-61888400	Weak transcription	Lung	lung
28	chr5:61864200-61883800	Weak transcription	Fetal Stomach	stomach
29	chr5:61864200-61888600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:61864200-61899200	Weak transcription	Thymus	Thymus
31	chr5:61864400-61888400	Weak transcription	Fetal Thymus	thymus
32	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
33	chr5:61865000-61883800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr5:61865000-61888400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:61865000-61890600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:61865000-61890600	Weak transcription	Fetal Intestine Large	intestine
37	chr5:61865200-61887600	Weak transcription	Fetal Intestine Small	intestine
38	chr5:61865200-61888000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:61865200-61888200	Weak transcription	Aorta	Aorta
40	chr5:61865200-61888200	Weak transcription	Left Ventricle	heart
41	chr5:61867000-61883600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:61869000-61883600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:61869400-61887600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr5:61872600-61888400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr5:61872600-61890000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:61874200-61890200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:61874400-61883800	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr5:61874400-61888400	Weak transcription	GM12878-XiMat	blood
49	chr5:61874800-61886800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:61874800-61887400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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