Variant report

Variant	esv2763867
Chromosome Location	chr5:57314217-57360670
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
2	chr5:57352872..57354791-chr5:57754482..57756403,2	MCF-7	breast:
3	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
4	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
5	chr5:57342588..57345255-chr5:57743719..57745899,2	MCF-7	breast:
6	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
7	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
8	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
9	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
10	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
11	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
12	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
13	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
14	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:
15	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
16	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
17	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
18	chr5:57358822..57360505-chr5:57370261..57371953,2	MCF-7	breast:
19	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
20	chr5:57345165..57347907-chr5:57349047..57352587,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 1169 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116333928	chr5:57314255-57314256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542291583	chr5:57314281-57314282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555584360	chr5:57314360-57314361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574140650	chr5:57314364-57314365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544897383	chr5:57314374-57314375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528537880	chr5:57314378-57314379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562993739	chr5:57314381-57314382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533382979	chr5:57314396-57314397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573008384	chr5:57314489-57314490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192142916	chr5:57314501-57314502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182378457	chr5:57314525-57314526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527815678	chr5:57314549-57314550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138631706	chr5:57314575-57314576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567495014	chr5:57314576-57314577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538934250	chr5:57314647-57314648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531366902	chr5:57314750-57314751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550056017	chr5:57314763-57314764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs149326453	chr5:57314792-57314793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370691323	chr5:57314793-57314794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115434543	chr5:57314830-57314831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547015290	chr5:57314831-57314832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547086527	chr5:57314835-57314836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs535979393	chr5:57314854-57314855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs554326652	chr5:57314925-57314926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558434434	chr5:57314949-57314950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375669072	chr5:57314952-57314953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs538026005	chr5:57314966-57314967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs77480287	chr5:57314989-57314990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113252985	chr5:57314990-57314991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539213340	chr5:57315001-57315002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545695423	chr5:57315004-57315005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559082894	chr5:57315007-57315008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs62368410	chr5:57315035-57315036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569559124	chr5:57315082-57315083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536989416	chr5:57315143-57315144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373704689	chr5:57315162-57315163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572462171	chr5:57315215-57315216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543155668	chr5:57315230-57315231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147988924	chr5:57315267-57315268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1489792	chr5:57315282-57315283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs34391901	chr5:57315305-57315306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114085236	chr5:57315325-57315326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565066884	chr5:57315338-57315339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539923806	chr5:57315345-57315346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532317858	chr5:57315358-57315359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16887694	chr5:57315370-57315371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565343750	chr5:57315372-57315373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535799097	chr5:57315410-57315411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141620920	chr5:57315424-57315425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558602448	chr5:57315426-57315427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57302600-57315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57309600-57314400	Weak transcription	Fetal Heart	heart
3	chr5:57311400-57315400	Weak transcription	Left Ventricle	heart
4	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
7	chr5:57312600-57315400	Weak transcription	Psoas Muscle	Psoas
8	chr5:57312800-57316200	Enhancers	Hela-S3	cervix
9	chr5:57312800-57317000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:57312800-57317200	Weak transcription	Placenta	Placenta
11	chr5:57313200-57314600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:57313800-57314600	Weak transcription	Fetal Lung	lung
13	chr5:57314200-57315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:57314400-57314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:57314400-57316000	Weak transcription	Spleen	Spleen
16	chr5:57314400-57316200	Enhancers	Fetal Heart	heart
17	chr5:57314400-57316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:57314600-57315000	Enhancers	Fetal Lung	lung
19	chr5:57314600-57315200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:57314600-57316400	Enhancers	HUVEC	blood vessel
21	chr5:57314800-57316200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:57314800-57316600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:57315000-57315200	Weak transcription	Fetal Lung	lung
24	chr5:57315200-57315400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:57315200-57316000	Enhancers	Fetal Lung	lung
26	chr5:57315400-57315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:57315400-57315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:57315400-57315800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:57315400-57315800	Enhancers	Fetal Muscle Trunk	muscle
30	chr5:57315400-57316200	Enhancers	Adipose Nuclei	Adipose
31	chr5:57315400-57316200	Enhancers	Aorta	Aorta
32	chr5:57315400-57316200	Enhancers	Fetal Muscle Leg	muscle
33	chr5:57315400-57316200	Enhancers	Psoas Muscle	Psoas
34	chr5:57315400-57317600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:57315400-57317600	Enhancers	Left Ventricle	heart
36	chr5:57315400-57318400	Enhancers	Right Atrium	heart
37	chr5:57315600-57315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:57315600-57315800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:57315600-57315800	Enhancers	Lung	lung
40	chr5:57315600-57315800	Enhancers	Ovary	ovary
41	chr5:57315600-57316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:57315600-57316200	Enhancers	Right Ventricle	heart
43	chr5:57315600-57316200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:57315600-57316200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:57315800-57317000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:57316000-57316800	Enhancers	Spleen	Spleen
47	chr5:57316000-57317200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:57316000-57317200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:57316000-57317400	Weak transcription	Fetal Lung	lung
50	chr5:57316200-57317400	Weak transcription	Aorta	Aorta

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