Variant report

Variant	esv3470515
Chromosome Location	chr5:60962705-60963440
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	chr5:60960558..60962945-chr5:60966490..60968029,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs70977858	chr5:60962736-60962737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34608282	chr5:60962739-60962740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201329619	chr5:60962740-60962741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371908280	chr5:60962741-60962742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35115380	chr5:60962742-60962743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs253178	chr5:60962743-60962744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35490689	chr5:60962751-60962752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs60418870	chr5:60962756-60962757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369182748	chr5:60962757-60962758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13175381	chr5:60962766-60962767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184315748	chr5:60962799-60962800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544846820	chr5:60962812-60962813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565666649	chr5:60962831-60962832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528214308	chr5:60962834-60962835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548246869	chr5:60962846-60962847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34259999	chr5:60962906-60962907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151213697	chr5:60962932-60962933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188549628	chr5:60962938-60962939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2441134	chr5:60962948-60962949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576757526	chr5:60962951-60962952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540136269	chr5:60962955-60962956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6883938	chr5:60962986-60962987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573176928	chr5:60963010-60963011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541985264	chr5:60963058-60963059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555849830	chr5:60963112-60963113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575297082	chr5:60963126-60963127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6865009	chr5:60963131-60963132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77745049	chr5:60963135-60963136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532319700	chr5:60963168-60963169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2455486	chr5:60963231-60963232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559117962	chr5:60963235-60963236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528113096	chr5:60963271-60963272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368967774	chr5:60963307-60963308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386508464	chr5:60963320-60963321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181048008	chr5:60963339-60963340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141358027	chr5:60963373-60963374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530574665	chr5:60963397-60963398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529311283	chr5:60963403-60963404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs573860738	chr5:60963418-60963419	Enhancers Weak transcription Flanking Active TSS	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
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
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
Urothelial carcinoma	21177765	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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60953600-60963000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:60955200-60974400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:60956400-60963000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:60960800-60965400	Weak transcription	Ovary	ovary
5	chr5:60962000-60962800	Enhancers	Spleen	Spleen
6	chr5:60962000-60965600	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:60962200-60965000	Enhancers	Brain Hippocampus Middle	brain
8	chr5:60962200-60969000	Weak transcription	Left Ventricle	heart
9	chr5:60962400-60963400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:60962400-60963400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:60962400-60963800	Enhancers	Brain Substantia Nigra	brain
12	chr5:60962400-60963800	Weak transcription	Pancreas	Pancrea
13	chr5:60962400-60963800	Weak transcription	Right Atrium	heart
14	chr5:60962400-60964200	Enhancers	Adipose Nuclei	Adipose
15	chr5:60962400-60964400	Enhancers	Liver	Liver
16	chr5:60962400-60965000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:60962400-60965600	Enhancers	Brain Anterior Caudate	brain
18	chr5:60962600-60963000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:60962600-60963400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:60962600-60963600	Weak transcription	Lung	lung
21	chr5:60962600-60963600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:60962600-60963800	Weak transcription	Brain Angular Gyrus	brain
23	chr5:60962600-60963800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:60962600-60968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:60962600-60968800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr5:60962600-60969000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:60962800-60963200	Weak transcription	Spleen	Spleen
28	chr5:60963000-60964000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:60963000-60964200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:60963000-60964400	Enhancers	Fetal Intestine Large	intestine
31	chr5:60963000-60964600	Enhancers	Fetal Intestine Small	intestine
32	chr5:60963200-60965600	Enhancers	Spleen	Spleen
33	chr5:60963400-60964200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:60963400-60964600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:60963400-60968400	Weak transcription	Primary monocytes fromperipheralblood	blood

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