Variant report

Variant	nsv1030395
Chromosome Location	chr5:35446516-35491185
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:35475711..35478019-chr5:35478892..35481658,2	MCF-7	breast:
2	chr5:35462498..35464383-chr5:35468000..35469774,2	MCF-7	breast:
3	chr5:35478172..35480721-chr5:35482936..35485324,3	MCF-7	breast:
4	chr5:35229138..35231448-chr5:35486089..35488667,2	MCF-7	breast:
5	chr5:35306548..35307429-chr5:35476806..35477517,2	MCF-7	breast:
6	chr5:35487823..35490658-chr5:35493869..35495497,2	K562	blood:
7	chr5:35478172..35480721-chr5:35482936..35485324,3	MCF-7	breast:
8	chr5:35406180..35407730-chr5:35461474..35464378,2	MCF-7	breast:
9	chr5:35466121..35468123-chr5:35468425..35470390,2	MCF-7	breast:
10	chr5:35466121..35468123-chr5:35468425..35470390,2	MCF-7	breast:
11	chr5:35462498..35464383-chr5:35468000..35469774,2	MCF-7	breast:
12	chr5:35475711..35478019-chr5:35478892..35481658,2	MCF-7	breast:
13	chr5:35463039..35464733-chr5:35469532..35472198,2	MCF-7	breast:
14	chr5:35229573..35231662-chr5:35476053..35479431,4	MCF-7	breast:
15	chr5:35463039..35464733-chr5:35469532..35472198,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113494	chromatin interactions

Extended variants
information (count: 1357 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1357 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187835917	chr5:35453817-35453818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150954272	chr5:35453850-35453851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543812245	chr5:35453924-35453925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564226285	chr5:35453930-35453931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114735199	chr5:35453969-35453970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192406946	chr5:35453987-35453988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140801208	chr5:35453989-35453990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145743160	chr5:35454065-35454066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548910824	chr5:35454089-35454090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182381946	chr5:35454118-35454119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530958021	chr5:35454142-35454143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138686935	chr5:35454182-35454183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570809826	chr5:35454211-35454212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550632121	chr5:35454233-35454234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35757093	chr5:35454278-35454279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539573422	chr5:35454306-35454307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553045729	chr5:35454342-35454343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144066063	chr5:35454354-35454355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535230240	chr5:35454368-35454369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187697566	chr5:35454379-35454380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575417811	chr5:35454381-35454382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544207906	chr5:35454384-35454385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557499082	chr5:35454450-35454451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577565912	chr5:35454477-35454478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146905547	chr5:35454493-35454494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560251495	chr5:35454494-35454495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6451200	chr5:35454498-35454499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192731281	chr5:35454562-35454563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184855892	chr5:35454588-35454589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572044139	chr5:35454597-35454598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115000330	chr5:35454652-35454653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190166998	chr5:35454684-35454685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193061296	chr5:35454685-35454686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533145646	chr5:35454769-35454770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs284723	chr5:35454774-35454775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs57022371	chr5:35454788-35454789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3065449	chr5:35454791-35454792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62709761	chr5:35454804-35454805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76925961	chr5:35454806-35454807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535285974	chr5:35454811-35454812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184812784	chr5:35454822-35454823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530022892	chr5:35454861-35454862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569015253	chr5:35454880-35454881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537801662	chr5:35454899-35454900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138870011	chr5:35454910-35454911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149401418	chr5:35454926-35454927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533724231	chr5:35454975-35454976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs284724	chr5:35454982-35454983	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573745506	chr5:35455007-35455008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542729105	chr5:35455008-35455009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35453800-35455000	Enhancers	Placenta	Placenta
2	chr5:35455000-35457000	Weak transcription	Placenta	Placenta
3	chr5:35457000-35457600	Enhancers	Placenta	Placenta
4	chr5:35457400-35459600	Enhancers	Liver	Liver
5	chr5:35457800-35459200	Enhancers	Fetal Intestine Large	intestine
6	chr5:35457800-35459600	Enhancers	Fetal Intestine Small	intestine
7	chr5:35458200-35459200	Enhancers	HepG2	liver
8	chr5:35458400-35459400	Enhancers	Fetal Heart	heart
9	chr5:35458800-35459200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:35459400-35464600	Weak transcription	Fetal Heart	heart
11	chr5:35464400-35468000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:35464600-35465400	Enhancers	Fetal Heart	heart
13	chr5:35467800-35468200	Enhancers	Fetal Intestine Small	intestine
14	chr5:35468000-35470400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:35468800-35469000	Enhancers	HepG2	liver
16	chr5:35468800-35471400	Enhancers	Placenta	Placenta
17	chr5:35469000-35469200	Enhancers	Pancreas	Pancrea
18	chr5:35469000-35470400	Weak transcription	HepG2	liver
19	chr5:35469200-35479400	Weak transcription	Pancreas	Pancrea
20	chr5:35470400-35471600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:35470400-35471600	Enhancers	HepG2	liver
22	chr5:35470600-35471000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr5:35470600-35471200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr5:35470800-35471200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:35470800-35471200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr5:35470800-35471600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:35471000-35471200	Enhancers	NHDF-Ad	bronchial
28	chr5:35471000-35471400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:35471000-35475000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:35471200-35473200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:35471200-35475800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:35471400-35471800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:35471400-35472000	Weak transcription	Placenta	Placenta
34	chr5:35471600-35476400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:35471800-35472200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:35472000-35472200	Enhancers	Placenta	Placenta
37	chr5:35473200-35473800	Weak transcription	NHDF-Ad	bronchial
38	chr5:35473800-35474000	Enhancers	NHDF-Ad	bronchial
39	chr5:35474000-35478000	Weak transcription	NHDF-Ad	bronchial
40	chr5:35475000-35475800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:35475400-35480400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr5:35475800-35477000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr5:35475800-35477200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr5:35475800-35478000	Enhancers	Fetal Kidney	kidney
45	chr5:35476000-35476200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:35476200-35477200	Enhancers	Colon Smooth Muscle	Colon
47	chr5:35476200-35479000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:35476400-35477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr5:35476400-35477200	Enhancers	Ovary	ovary
50	chr5:35476400-35479000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links