Variant report

Variant	nsv1008590
Chromosome Location	chr3:53011741-53039267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 1075 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59121589	chr3:53011806-53011807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11706035	chr3:53011868-53011869	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs115865235	chr3:53011905-53011906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186006977	chr3:53012018-53012019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34041409	chr3:53012024-53012025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553070745	chr3:53012117-53012118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573334380	chr3:53012134-53012135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542335800	chr3:53012168-53012169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190076881	chr3:53012178-53012179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531129383	chr3:53012218-53012219	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs9848885	chr3:53012251-53012252	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs564814297	chr3:53012268-53012269	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371170371	chr3:53012293-53012294	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182682542	chr3:53012300-53012301	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35216222	chr3:53012308-53012309	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551433249	chr3:53012310-53012311	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552176321	chr3:53012314-53012315	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs565534504	chr3:53012332-53012333	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187513798	chr3:53012348-53012349	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547887260	chr3:53012380-53012381	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375416882	chr3:53012382-53012383	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs567790798	chr3:53012400-53012401	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570803652	chr3:53012446-53012447	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs71087044	chr3:53012452-53012453	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368209371	chr3:53012497-53012498	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529729121	chr3:53012501-53012502	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192323105	chr3:53012514-53012515	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570751892	chr3:53012522-53012523	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576958146	chr3:53012603-53012604	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs546606519	chr3:53012604-53012605	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373354361	chr3:53012605-53012606	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539349834	chr3:53012640-53012641	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553374097	chr3:53012641-53012642	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs573281838	chr3:53012654-53012655	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs542197476	chr3:53012670-53012671	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73839775	chr3:53012679-53012680	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145030163	chr3:53012686-53012687	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183815474	chr3:53012732-53012733	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561259154	chr3:53012744-53012745	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189180382	chr3:53012788-53012789	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540559718	chr3:53012832-53012833	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193121239	chr3:53012871-53012872	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34943350	chr3:53012888-53012889	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs184311690	chr3:53012923-53012924	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138872639	chr3:53012946-53012947	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530503243	chr3:53012986-53012987	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186689644	chr3:53013035-53013036	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs191663272	chr3:53013069-53013070	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184128018	chr3:53013150-53013151	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs546579316	chr3:53013180-53013181	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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:351 , 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	chr3:52987600-53014200	Weak transcription	Fetal Thymus	thymus
10	chr3:52987600-53014200	Weak transcription	Thymus	Thymus
11	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr3:52988000-53014200	Weak transcription	Primary T cells from cord blood	blood
14	chr3:52992000-53015800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
16	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:53002400-53012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:53002400-53013400	Weak transcription	Liver	Liver
19	chr3:53003400-53016000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:53003400-53017000	Weak transcription	Dnd41	blood
21	chr3:53004000-53012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:53004200-53014800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:53006200-53015600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr3:53006400-53012000	Weak transcription	Fetal Heart	heart
25	chr3:53008200-53015800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
27	chr3:53008600-53016000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:53009400-53016000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:53009800-53017600	Weak transcription	HepG2	liver
30	chr3:53010000-53012000	Weak transcription	NHEK	skin
31	chr3:53011400-53012200	Weak transcription	Right Atrium	heart
32	chr3:53011400-53012600	Enhancers	Psoas Muscle	Psoas
33	chr3:53011800-53012600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:53012000-53012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:53012000-53012600	Enhancers	Fetal Heart	heart
36	chr3:53012000-53012600	Enhancers	NHEK	skin
37	chr3:53012200-53012400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:53012200-53012400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr3:53012200-53012600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:53012200-53012600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:53012200-53012600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:53012200-53012600	Enhancers	Esophagus	oesophagus
43	chr3:53012200-53012600	Enhancers	Pancreas	Pancrea
44	chr3:53012200-53012600	Enhancers	Right Atrium	heart
45	chr3:53012200-53012600	Enhancers	HMEC	breast
46	chr3:53012200-53012800	Enhancers	Fetal Muscle Leg	muscle
47	chr3:53012200-53012800	Enhancers	Gastric	stomach
48	chr3:53012200-53013400	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr3:53012400-53012600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr3:53012400-53017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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