Variant report

Variant	nsv1022237
Chromosome Location	chr5:57313235-57332542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:
2	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
3	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
4	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
5	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
6	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
7	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1489795	chr5:57313235-57313236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550985269	chr5:57313272-57313273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569132421	chr5:57313314-57313315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78925610	chr5:57313363-57313364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551573607	chr5:57313418-57313419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141050986	chr5:57313449-57313450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369318800	chr5:57313521-57313522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377642783	chr5:57313568-57313569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185978271	chr5:57313585-57313586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189128462	chr5:57313592-57313593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138230095	chr5:57313593-57313594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550688915	chr5:57313596-57313597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373852235	chr5:57313599-57313600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556152804	chr5:57313723-57313724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185711516	chr5:57313737-57313738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191600889	chr5:57313791-57313792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553413590	chr5:57313802-57313803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573107194	chr5:57313815-57313816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2101525	chr5:57313830-57313831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs532790101	chr5:57313875-57313876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536287127	chr5:57313921-57313922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529615896	chr5:57313922-57313923	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368819442	chr5:57313935-57313936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544572316	chr5:57313941-57313942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs182532698	chr5:57314001-57314002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186213723	chr5:57314025-57314026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78963195	chr5:57314043-57314044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566942202	chr5:57314066-57314067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144773474	chr5:57314081-57314082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549234178	chr5:57314093-57314094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375209855	chr5:57314102-57314103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs369770102	chr5:57314156-57314157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191901560	chr5:57314157-57314158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538186388	chr5:57314162-57314163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183365482	chr5:57314181-57314182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571234007	chr5:57314186-57314187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373541918	chr5:57314190-57314191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187266348	chr5:57314193-57314194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553474746	chr5:57314210-57314211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116333928	chr5:57314255-57314256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542291583	chr5:57314281-57314282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555584360	chr5:57314360-57314361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574140650	chr5:57314364-57314365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544897383	chr5:57314374-57314375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528537880	chr5:57314378-57314379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562993739	chr5:57314381-57314382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533382979	chr5:57314396-57314397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs573008384	chr5:57314489-57314490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192142916	chr5:57314501-57314502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182378457	chr5:57314525-57314526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:84 , 50 per page) page: 1 2

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	chr5:57311800-57314200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
8	chr5:57312400-57313600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:57312400-57313600	Enhancers	Brain Germinal Matrix	brain
10	chr5:57312600-57315400	Weak transcription	Psoas Muscle	Psoas
11	chr5:57312800-57313800	Enhancers	Fetal Lung	lung
12	chr5:57312800-57316200	Enhancers	Hela-S3	cervix
13	chr5:57312800-57317000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:57312800-57317200	Weak transcription	Placenta	Placenta
15	chr5:57313200-57314600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:57313800-57314600	Weak transcription	Fetal Lung	lung
17	chr5:57314000-57314200	Enhancers	Spleen	Spleen
18	chr5:57314200-57315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:57314400-57314800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:57314400-57316000	Weak transcription	Spleen	Spleen
21	chr5:57314400-57316200	Enhancers	Fetal Heart	heart
22	chr5:57314400-57316600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:57314600-57315000	Enhancers	Fetal Lung	lung
24	chr5:57314600-57315200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:57314600-57316400	Enhancers	HUVEC	blood vessel
26	chr5:57314800-57316200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:57314800-57316600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr5:57315000-57315200	Weak transcription	Fetal Lung	lung
29	chr5:57315200-57315400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr5:57315200-57316000	Enhancers	Fetal Lung	lung
31	chr5:57315400-57315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:57315400-57315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:57315400-57315800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:57315400-57315800	Enhancers	Fetal Muscle Trunk	muscle
35	chr5:57315400-57316200	Enhancers	Adipose Nuclei	Adipose
36	chr5:57315400-57316200	Enhancers	Aorta	Aorta
37	chr5:57315400-57316200	Enhancers	Fetal Muscle Leg	muscle
38	chr5:57315400-57316200	Enhancers	Psoas Muscle	Psoas
39	chr5:57315400-57317600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr5:57315400-57317600	Enhancers	Left Ventricle	heart
41	chr5:57315400-57318400	Enhancers	Right Atrium	heart
42	chr5:57315600-57315800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:57315600-57315800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:57315600-57315800	Enhancers	Lung	lung
45	chr5:57315600-57315800	Enhancers	Ovary	ovary
46	chr5:57315600-57316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr5:57315600-57316200	Enhancers	Right Ventricle	heart
48	chr5:57315600-57316200	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:57315600-57316200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:57315800-57317000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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