Variant report

Variant	nsv1030117
Chromosome Location	chr5:58587672-58637179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58605150..58607520-chr5:58610737..58612919,2	K562	blood:
2	chr5:58631024..58631593-chr5:58663326..58663872,2	MCF-7	breast:
3	chr5:58618629..58620597-chr5:58633400..58635092,2	K562	blood:
4	chr5:58605150..58607520-chr5:58610737..58612919,2	K562	blood:
5	chr5:58618629..58620597-chr5:58633400..58635092,2	K562	blood:
6	chr5:58623297..58625750-chr5:58642406..58644812,2	MCF-7	breast:

Extended variants
information (count: 1915 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1915 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76426443	chr5:58587679-58587680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11949985	chr5:58587773-58587774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35926698	chr5:58587900-58587901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs148726357	chr5:58587925-58587926	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560408893	chr5:58587957-58587958	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs550243665	chr5:58587970-58587971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570261718	chr5:58587977-58587978	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs575196315	chr5:58587983-58587984	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368864796	chr5:58587989-58587990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs77003536	chr5:58588164-58588165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181775959	chr5:58588174-58588175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566623141	chr5:58588193-58588194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185285741	chr5:58588194-58588195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549037279	chr5:58588237-58588238	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28044	chr5:58588269-58588270	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190331244	chr5:58588286-58588287	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558278868	chr5:58588292-58588293	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375323966	chr5:58588316-58588317	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578147406	chr5:58588419-58588420	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541948853	chr5:58588421-58588422	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181122122	chr5:58588428-58588429	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554358481	chr5:58588429-58588430	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10472101	chr5:58588430-58588431	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373221331	chr5:58588479-58588480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540055573	chr5:58588486-58588487	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185479107	chr5:58588487-58588488	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574882459	chr5:58588509-58588510	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142680992	chr5:58588521-58588522	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563801037	chr5:58588536-58588537	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532881421	chr5:58588570-58588571	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10472102	chr5:58588580-58588581	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs27183	chr5:58588629-58588630	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529112759	chr5:58588651-58588652	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189698497	chr5:58588684-58588685	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544227851	chr5:58588715-58588716	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569103665	chr5:58588719-58588720	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538195416	chr5:58588721-58588722	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180999356	chr5:58588811-58588812	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571734782	chr5:58588864-58588865	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186184448	chr5:58588921-58588922	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192045699	chr5:58588941-58588942	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151022217	chr5:58589037-58589038	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140957404	chr5:58589059-58589060	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373603676	chr5:58589065-58589066	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35963925	chr5:58589073-58589074	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34357376	chr5:58589226-58589227	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556772613	chr5:58589237-58589238	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143383716	chr5:58589286-58589287	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543773258	chr5:58589304-58589305	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563762831	chr5:58589332-58589333	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58574200-58590200	Weak transcription	Right Atrium	heart
2	chr5:58583600-58589600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:58583600-58592400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:58583600-58592600	Weak transcription	Psoas Muscle	Psoas
5	chr5:58583600-58596400	Weak transcription	Esophagus	oesophagus
6	chr5:58583800-58591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:58584000-58588400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:58584000-58588600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:58584000-58588600	Weak transcription	HMEC	breast
10	chr5:58584000-58589000	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:58584000-58589400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:58584000-58591800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:58584000-58596400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:58584200-58587800	Weak transcription	Fetal Heart	heart
15	chr5:58584200-58588600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:58584200-58588600	Weak transcription	NHEK	skin
17	chr5:58584800-58592400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:58585400-58588400	Enhancers	A549	lung
19	chr5:58585800-58587800	Weak transcription	HUVEC	blood vessel
20	chr5:58587000-58587800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:58587000-58588600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:58587600-58587800	Enhancers	Hela-S3	cervix
23	chr5:58587800-58588000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:58587800-58588000	Flanking Active TSS	Hela-S3	cervix
25	chr5:58587800-58588200	Enhancers	Fetal Heart	heart
26	chr5:58587800-58589800	Enhancers	HUVEC	blood vessel
27	chr5:58587800-58592800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:58588000-58588200	Enhancers	Hela-S3	cervix
29	chr5:58588000-58588600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:58588000-58588800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:58588000-58592400	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:58588200-58588800	Genic enhancers	Hela-S3	cervix
33	chr5:58588200-58591200	Weak transcription	Fetal Heart	heart
34	chr5:58588400-58590200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:58588400-58590200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:58588400-58591400	Genic enhancers	A549	lung
37	chr5:58588600-58589200	Enhancers	NHEK	skin
38	chr5:58588600-58589800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:58588600-58590000	Enhancers	HMEC	breast
40	chr5:58588600-58590600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:58588600-58592400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:58588600-58592400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr5:58588800-58592200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:58588800-58592400	Enhancers	Hela-S3	cervix
45	chr5:58589000-58592400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:58589000-58592400	Enhancers	Colon Smooth Muscle	Colon
47	chr5:58589200-58589600	Weak transcription	NHEK	skin
48	chr5:58589400-58589600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:58589400-58589800	Enhancers	Left Ventricle	heart
50	chr5:58589400-58590200	Enhancers	Stomach Mucosa	stomach

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