Variant report

Variant	nsv1020020
Chromosome Location	chr5:57326015-57342152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
2	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
3	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
4	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
5	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
6	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
7	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 380 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545785285	chr5:57332631-57332632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2635708	chr5:57333012-57333013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557761234	chr5:57333030-57333031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112932515	chr5:57333051-57333052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2604119	chr5:57333095-57333096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2635703	chr5:57333135-57333136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2635699	chr5:57333211-57333212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2635698	chr5:57333236-57333237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539951692	chr5:57333301-57333302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188510782	chr5:57333513-57333514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559307122	chr5:57333727-57333728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377435650	chr5:57333776-57333777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370537863	chr5:57333777-57333778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373822161	chr5:57333778-57333779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371505003	chr5:57333805-57333806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533021466	chr5:57333808-57333809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72753324	chr5:57333893-57333894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563611736	chr5:57333902-57333903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369126084	chr5:57333943-57333944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552188047	chr5:57333949-57333950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs724114	chr5:57333979-57333980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112577628	chr5:57334022-57334023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528633334	chr5:57334036-57334037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137863290	chr5:57334039-57334040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1387641	chr5:57334047-57334048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs140781635	chr5:57334078-57334079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150104922	chr5:57334149-57334150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138903832	chr5:57334186-57334187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539738156	chr5:57334191-57334192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549196604	chr5:57334210-57334211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557836540	chr5:57334232-57334233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572705560	chr5:57334234-57334235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181308226	chr5:57334254-57334255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555135757	chr5:57334257-57334258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567437887	chr5:57334307-57334308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575000972	chr5:57334312-57334313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114135492	chr5:57334324-57334325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183563098	chr5:57334338-57334339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547528788	chr5:57334408-57334409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531149486	chr5:57334439-57334440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570570725	chr5:57334466-57334467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369738771	chr5:57334519-57334520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564508083	chr5:57334561-57334562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201971225	chr5:57334594-57334595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528433484	chr5:57334596-57334597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547084753	chr5:57334600-57334601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562011900	chr5:57334611-57334612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547427550	chr5:57334630-57334631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547570839	chr5:57334661-57334662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67198509	chr5:57334664-57334665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57332400-57332600	Enhancers	Stomach Mucosa	stomach
2	chr5:57332600-57338200	Weak transcription	Stomach Mucosa	stomach
3	chr5:57334600-57335000	Enhancers	Fetal Brain Male	brain
4	chr5:57334600-57335000	Enhancers	Right Atrium	heart
5	chr5:57335200-57336000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:57335200-57339000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:57335800-57336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:57335800-57336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:57335800-57336200	Enhancers	Liver	Liver
10	chr5:57335800-57336800	Enhancers	HMEC	breast
11	chr5:57335800-57337000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:57335800-57337000	Enhancers	NHDF-Ad	bronchial
13	chr5:57335800-57337200	Enhancers	HSMM	muscle
14	chr5:57335800-57337400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:57336000-57336600	Enhancers	Osteobl	bone
16	chr5:57336000-57336800	Enhancers	NHEK	skin
17	chr5:57336000-57337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:57336000-57337000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:57336000-57337000	Enhancers	Hela-S3	cervix
20	chr5:57336000-57337000	Enhancers	NH-A	brain
21	chr5:57336000-57337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:57336000-57337200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:57336000-57337200	Weak transcription	K562	blood
24	chr5:57336200-57338800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:57336600-57338800	Weak transcription	Osteobl	bone
26	chr5:57336800-57338200	Weak transcription	HMEC	breast
27	chr5:57336800-57338600	Weak transcription	NHEK	skin
28	chr5:57337000-57338600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:57337000-57338600	Weak transcription	Hela-S3	cervix
30	chr5:57337200-57338600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:57337200-57339000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:57337200-57340400	Enhancers	K562	blood
33	chr5:57337400-57339200	Enhancers	Dnd41	blood
34	chr5:57338200-57339400	Enhancers	HMEC	breast
35	chr5:57338200-57339800	Enhancers	Stomach Mucosa	stomach
36	chr5:57338600-57339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:57338600-57339400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:57338600-57339400	Enhancers	NHEK	skin
39	chr5:57338600-57339600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:57338600-57339800	Enhancers	Hela-S3	cervix
41	chr5:57338800-57339200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:57338800-57339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:57338800-57339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:57338800-57339200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr5:57338800-57339400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:57338800-57339400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:57338800-57339400	Enhancers	Osteobl	bone
48	chr5:57338800-57339600	Enhancers	Brain Angular Gyrus	brain
49	chr5:57338800-57340200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:57339000-57339200	Enhancers	HSMM	muscle

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