Variant report

Variant	nsv1001449
Chromosome Location	chr3:53009379-53039104
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53004365..53006043-chr3:53009863..53012220,2	MCF-7	breast:
2	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
3	chr3:53025419..53026271-chr3:53080327..53081039,2	MCF-7	breast:
4	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
5	chr3:52776114..52776854-chr3:53020723..53021564,2	K562	blood:
6	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:
7	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:
8	chr3:53037209..53039730-chr3:53079605..53081876,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 1139 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544909595	chr3:53009394-53009395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373090396	chr3:53009396-53009397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565070759	chr3:53009436-53009437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527633696	chr3:53009476-53009477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541308455	chr3:53009522-53009523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189145362	chr3:53009538-53009539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147297656	chr3:53009541-53009542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9853086	chr3:53009548-53009549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192788765	chr3:53009572-53009573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572724145	chr3:53009573-53009574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6801235	chr3:53009595-53009596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs552543713	chr3:53009678-53009679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184661467	chr3:53009709-53009710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534869023	chr3:53009753-53009754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533892041	chr3:53009772-53009773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548905059	chr3:53009778-53009779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140869745	chr3:53009812-53009813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189735732	chr3:53009838-53009839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13091436	chr3:53009902-53009903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9837302	chr3:53009904-53009905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9874931	chr3:53009905-53009906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144840197	chr3:53009915-53009916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558917117	chr3:53009916-53009917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181253043	chr3:53009963-53009964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147949865	chr3:53009966-53009967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577208119	chr3:53009986-53009987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149014935	chr3:53009988-53009989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572215007	chr3:53009990-53009991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185710804	chr3:53010038-53010039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560867865	chr3:53010160-53010161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574353683	chr3:53010191-53010192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373523184	chr3:53010235-53010236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13091844	chr3:53010271-53010272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs189117531	chr3:53010279-53010280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142782839	chr3:53010286-53010287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559544380	chr3:53010300-53010301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181844431	chr3:53010337-53010338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151047329	chr3:53010431-53010432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568805308	chr3:53010493-53010494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537719612	chr3:53010589-53010590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556721977	chr3:53010601-53010602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116764721	chr3:53010606-53010607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569622823	chr3:53010620-53010621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72961755	chr3:53010642-53010643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558623043	chr3:53010712-53010713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573966445	chr3:53010718-53010719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57368711	chr3:53010729-53010730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201326869	chr3:53010731-53010732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs36090694	chr3:53010742-53010743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs542458640	chr3:53010757-53010758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52954000-53012200	Weak transcription	Esophagus	oesophagus
2	chr3:52954200-53012200	Weak transcription	Pancreas	Pancrea
3	chr3:52962400-53012400	Weak transcription	Adipose Nuclei	Adipose
4	chr3:52964600-53012200	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
6	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:52986400-53012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:52987200-53017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:52987600-53009400	Weak transcription	Placenta	Placenta
10	chr3:52987600-53014200	Weak transcription	Fetal Thymus	thymus
11	chr3:52987600-53014200	Weak transcription	Thymus	Thymus
12	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr3:52988000-53014200	Weak transcription	Primary T cells from cord blood	blood
15	chr3:52992000-53015800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
17	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:53002400-53012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:53002400-53013400	Weak transcription	Liver	Liver
20	chr3:53003400-53016000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:53003400-53017000	Weak transcription	Dnd41	blood
22	chr3:53004000-53012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:53004200-53014800	Weak transcription	Fetal Intestine Small	intestine
24	chr3:53006200-53015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:53006400-53012000	Weak transcription	Fetal Heart	heart
26	chr3:53008200-53009400	Enhancers	GM12878-XiMat	blood
27	chr3:53008200-53015800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
29	chr3:53008600-53009400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr3:53008600-53016000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:53008800-53009800	Enhancers	A549	lung
32	chr3:53009000-53009400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr3:53009000-53009800	Enhancers	HepG2	liver
34	chr3:53009400-53009600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr3:53009400-53009800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:53009400-53010000	Enhancers	Placenta	Placenta
37	chr3:53009400-53016000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr3:53009600-53010000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:53009800-53010000	Enhancers	Right Atrium	heart
40	chr3:53009800-53017600	Weak transcription	HepG2	liver
41	chr3:53010000-53011200	Weak transcription	Right Atrium	heart
42	chr3:53010000-53012000	Weak transcription	NHEK	skin
43	chr3:53011200-53011400	Enhancers	Right Atrium	heart
44	chr3:53011400-53012200	Weak transcription	Right Atrium	heart
45	chr3:53011400-53012600	Enhancers	Psoas Muscle	Psoas
46	chr3:53011800-53012600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:53012000-53012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:53012000-53012600	Enhancers	Fetal Heart	heart
49	chr3:53012000-53012600	Enhancers	NHEK	skin
50	chr3:53012200-53012400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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