Variant report

Variant	nsv1001802
Chromosome Location	chr3:54236994-54275831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:54240665..54242603-chr3:54242842..54245358,2	K562	blood:
2	chr3:54240665..54242603-chr3:54242842..54245358,2	K562	blood:

Extended variants
information (count: 1651 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566177355	chr3:54237040-54237041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552354958	chr3:54237054-54237055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187403145	chr3:54237193-54237194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527436140	chr3:54237196-54237197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368823468	chr3:54237237-54237238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149284932	chr3:54237248-54237249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191886137	chr3:54237294-54237295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533956275	chr3:54237295-54237296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12488432	chr3:54237300-54237301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs185266862	chr3:54237317-54237318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188932227	chr3:54237318-54237319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569517711	chr3:54237335-54237336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538647745	chr3:54237346-54237347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558181030	chr3:54237347-54237348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114286069	chr3:54237362-54237363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577940249	chr3:54237374-54237375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534882084	chr3:54237404-54237405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193236046	chr3:54237445-54237446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9827658	chr3:54237489-54237490	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116745401	chr3:54237515-54237516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115192042	chr3:54237516-54237517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184450725	chr3:54237536-54237537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577141647	chr3:54237552-54237553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546181967	chr3:54237559-54237560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559844133	chr3:54237624-54237625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528644061	chr3:54237630-54237631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114638988	chr3:54237649-54237650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561099058	chr3:54237706-54237707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529914049	chr3:54237710-54237711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77207658	chr3:54237717-54237718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558348981	chr3:54237778-54237779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569934001	chr3:54237791-54237792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144631505	chr3:54237809-54237810	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551798895	chr3:54237812-54237813	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565436395	chr3:54237813-54237814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534442861	chr3:54237835-54237836	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200888566	chr3:54237847-54237848	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113256362	chr3:54237862-54237863	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575513587	chr3:54237899-54237900	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34537817	chr3:54237904-54237905	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188162339	chr3:54237907-54237908	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543028590	chr3:54237925-54237926	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577476287	chr3:54237950-54237951	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546216872	chr3:54237951-54237952	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553430574	chr3:54237985-54237986	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76283977	chr3:54237987-54237988	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542307492	chr3:54238013-54238014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562183418	chr3:54238034-54238035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13319916	chr3:54238058-54238059	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181318426	chr3:54238080-54238081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54233000-54237200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:54234200-54237600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:54235800-54238000	Enhancers	Right Atrium	heart
4	chr3:54236200-54237400	Enhancers	Brain Germinal Matrix	brain
5	chr3:54236200-54237800	Enhancers	Left Ventricle	heart
6	chr3:54236600-54237000	Weak transcription	Right Ventricle	heart
7	chr3:54236600-54237400	Enhancers	Fetal Heart	heart
8	chr3:54237000-54238000	Enhancers	Right Ventricle	heart
9	chr3:54237200-54237800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:54237600-54238000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:54237800-54238000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:54237800-54241000	Weak transcription	Left Ventricle	heart
13	chr3:54238000-54238200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:54238000-54247400	Weak transcription	Right Atrium	heart
15	chr3:54241000-54241800	Enhancers	Left Ventricle	heart
16	chr3:54241800-54244600	Weak transcription	Left Ventricle	heart
17	chr3:54244000-54244200	Enhancers	Fetal Brain Male	brain
18	chr3:54244200-54249400	Weak transcription	Fetal Brain Male	brain
19	chr3:54244600-54245000	Enhancers	Left Ventricle	heart
20	chr3:54244600-54245000	Enhancers	Lung	lung
21	chr3:54244600-54246200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:54244800-54245000	Enhancers	Esophagus	oesophagus
23	chr3:54244800-54245600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr3:54244800-54245600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr3:54244800-54245800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:54245000-54246800	Weak transcription	Left Ventricle	heart
27	chr3:54245000-54248400	Weak transcription	Right Ventricle	heart
28	chr3:54245400-54245800	Enhancers	Psoas Muscle	Psoas
29	chr3:54245600-54247400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:54245600-54247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:54245800-54246200	Weak transcription	Psoas Muscle	Psoas
32	chr3:54245800-54247400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:54246200-54246400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:54246200-54246400	Enhancers	Psoas Muscle	Psoas
35	chr3:54246400-54247400	Weak transcription	Psoas Muscle	Psoas
36	chr3:54246600-54246800	Enhancers	Rectal Smooth Muscle	rectum
37	chr3:54246800-54247000	Enhancers	Left Ventricle	heart
38	chr3:54247000-54247400	Weak transcription	Left Ventricle	heart
39	chr3:54247200-54248200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:54247400-54247600	Enhancers	Psoas Muscle	Psoas
41	chr3:54247400-54248800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:54247400-54248800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:54247400-54249000	Enhancers	Brain Anterior Caudate	brain
44	chr3:54247400-54249000	Enhancers	Left Ventricle	heart
45	chr3:54247400-54249000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:54247400-54249200	Enhancers	Right Atrium	heart
47	chr3:54247600-54249000	Enhancers	Brain Angular Gyrus	brain
48	chr3:54247800-54248000	Enhancers	Ovary	ovary
49	chr3:54247800-54249000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:54247800-54254600	Weak transcription	Gastric	stomach

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