Variant report

Variant	nsv597907
Chromosome Location	chr5:42629998-42650384
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
2	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
3	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
4	chr5:42643852..42646309-chr5:42650838..42653598,2	K562	blood:
5	chr5:42633457..42635386-chr5:42636823..42639226,2	MCF-7	breast:
6	chr5:42638957..42641022-chr5:42643162..42645548,2	K562	blood:
7	chr5:42649529..42651492-chr5:42652082..42654194,2	K562	blood:
8	chr5:42642428..42645184-chr5:42653462..42655294,2	K562	blood:
9	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
10	chr5:42583094..42584059-chr5:42636345..42636869,2	K562	blood:
11	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
12	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
13	chr5:42649529..42651140-chr5:42652694..42654237,2	K562	blood:
14	chr5:42633457..42635386-chr5:42636823..42639226,2	MCF-7	breast:
15	chr5:42638957..42641022-chr5:42643162..42645548,2	K562	blood:
16	chr5:42228076..42228879-chr5:42636463..42637129,2	MCF-7	breast:
17	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:

No data

Extended variants
information (count: 781 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56172046	chr5:42629998-42629999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192511664	chr5:42630028-42630029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138715694	chr5:42630062-42630063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148839200	chr5:42630138-42630139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143498670	chr5:42630150-42630151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533654944	chr5:42630228-42630229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558498731	chr5:42630291-42630292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182497255	chr5:42630302-42630303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539304393	chr5:42630413-42630414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557714012	chr5:42630443-42630444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546642707	chr5:42630444-42630445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367888447	chr5:42630483-42630484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575904984	chr5:42630600-42630601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148026285	chr5:42630622-42630623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141742782	chr5:42630624-42630625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369465313	chr5:42630691-42630692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573240028	chr5:42630709-42630710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142354464	chr5:42630761-42630762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188003809	chr5:42630825-42630826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565246742	chr5:42630867-42630868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146025739	chr5:42630884-42630885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544099926	chr5:42630891-42630892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs55749721	chr5:42630984-42630985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547063896	chr5:42631051-42631052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34035076	chr5:42631052-42631053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141947826	chr5:42631069-42631070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547934730	chr5:42631105-42631106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28943887	chr5:42631117-42631118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551061791	chr5:42631133-42631134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28943888	chr5:42631177-42631178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs6888313	chr5:42631208-42631209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570403937	chr5:42631209-42631210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201048476	chr5:42631219-42631220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537489555	chr5:42631238-42631239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536866712	chr5:42631252-42631253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6873545	chr5:42631264-42631265	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs569530528	chr5:42631329-42631330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536946499	chr5:42631350-42631351	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555169462	chr5:42631356-42631357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149998650	chr5:42631446-42631447	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573830091	chr5:42631447-42631448	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534951859	chr5:42631448-42631449	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540703596	chr5:42631451-42631452	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144293447	chr5:42631507-42631508	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182575978	chr5:42631514-42631515	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187189207	chr5:42631535-42631536	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148762314	chr5:42631559-42631560	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574363772	chr5:42631560-42631561	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78634798	chr5:42631563-42631564	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578104793	chr5:42631643-42631644	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42622800-42631200	Weak transcription	Adipose Nuclei	Adipose
2	chr5:42623000-42631400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:42623000-42644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:42623200-42631400	Weak transcription	Right Atrium	heart
5	chr5:42623800-42632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:42624600-42648000	Weak transcription	Fetal Lung	lung
7	chr5:42626600-42632600	Weak transcription	Aorta	Aorta
8	chr5:42626800-42631600	Weak transcription	Placenta	Placenta
9	chr5:42627200-42632200	Weak transcription	Ovary	ovary
10	chr5:42628200-42631400	Weak transcription	Left Ventricle	heart
11	chr5:42628400-42630400	Weak transcription	Fetal Heart	heart
12	chr5:42628400-42631400	Weak transcription	Liver	Liver
13	chr5:42628400-42631400	Weak transcription	Psoas Muscle	Psoas
14	chr5:42628400-42631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:42628400-42632000	Weak transcription	Esophagus	oesophagus
16	chr5:42629200-42639600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:42629800-42631400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:42629800-42637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:42630400-42634600	Enhancers	Fetal Heart	heart
20	chr5:42631200-42632400	Strong transcription	Adipose Nuclei	Adipose
21	chr5:42631400-42631600	Enhancers	Left Ventricle	heart
22	chr5:42631400-42631600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:42631400-42631600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:42631400-42632800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:42631400-42632800	Genic enhancers	Liver	Liver
26	chr5:42631400-42632800	Enhancers	Psoas Muscle	Psoas
27	chr5:42631400-42632800	Enhancers	Right Atrium	heart
28	chr5:42631600-42631800	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:42631600-42632000	Weak transcription	Left Ventricle	heart
30	chr5:42631600-42632000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:42631600-42632000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:42631600-42632800	Enhancers	Placenta	Placenta
33	chr5:42632000-42632400	Enhancers	Esophagus	oesophagus
34	chr5:42632000-42632600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:42632000-42632800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr5:42632000-42632800	Enhancers	Left Ventricle	heart
37	chr5:42632000-42632800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:42632200-42632800	Enhancers	Gastric	stomach
39	chr5:42632200-42632800	Enhancers	Ovary	ovary
40	chr5:42632400-42632800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:42632400-42632800	Genic enhancers	Adipose Nuclei	Adipose
42	chr5:42632600-42632800	Enhancers	Aorta	Aorta
43	chr5:42632600-42633800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:42632800-42634000	Weak transcription	Right Atrium	heart
45	chr5:42632800-42634600	Weak transcription	Psoas Muscle	Psoas
46	chr5:42632800-42634800	Weak transcription	Liver	Liver
47	chr5:42632800-42644600	Weak transcription	Adipose Nuclei	Adipose
48	chr5:42632800-42648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:42633800-42634000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:42634000-42634200	Enhancers	Right Atrium	heart

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