Variant report

Variant	nsv967254
Chromosome Location	chr3:54061193-54072155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:54058301..54060769-chr3:54067941..54069670,2	K562	blood:
2	chr3:54059654..54061484-chr3:54064096..54065645,2	K562	blood:
3	chr3:54059654..54061484-chr3:54064096..54065645,2	K562	blood:
4	chr3:54065211..54067280-chr3:54156473..54158589,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157445	chromatin interactions

Extended variants
information (count: 393 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372763903	chr3:54061206-54061207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549707651	chr3:54061217-54061218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559736049	chr3:54061247-54061248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528533802	chr3:54061259-54061260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541944954	chr3:54061286-54061287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373341120	chr3:54061309-54061310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560718014	chr3:54061332-54061333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529826480	chr3:54061353-54061354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73841283	chr3:54061370-54061371	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561529031	chr3:54061371-54061372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147497074	chr3:54061421-54061422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532479141	chr3:54061427-54061428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187409031	chr3:54061439-54061440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192941048	chr3:54061511-54061512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534390994	chr3:54061532-54061533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75016712	chr3:54061535-54061536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568194440	chr3:54061542-54061543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555481372	chr3:54061623-54061624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140213811	chr3:54061631-54061632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530942271	chr3:54061798-54061799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116065758	chr3:54061799-54061800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145698147	chr3:54061817-54061818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183955633	chr3:54061850-54061851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540130777	chr3:54061889-54061890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553066708	chr3:54061891-54061892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149553810	chr3:54061895-54061896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6789509	chr3:54061976-54061977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541857387	chr3:54061979-54061980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139722669	chr3:54062002-54062003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575382277	chr3:54062033-54062034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148306324	chr3:54062045-54062046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188904790	chr3:54062051-54062052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111724566	chr3:54062063-54062064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565864552	chr3:54062076-54062077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145767119	chr3:54062111-54062112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567602097	chr3:54062156-54062157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552466989	chr3:54062179-54062180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559050773	chr3:54062188-54062189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55940822	chr3:54062195-54062196	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs60651798	chr3:54062203-54062204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs568157615	chr3:54062235-54062236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537181390	chr3:54062257-54062258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550852696	chr3:54062296-54062297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192683230	chr3:54062303-54062304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539713128	chr3:54062381-54062382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79938707	chr3:54062434-54062435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573487820	chr3:54062461-54062462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566554442	chr3:54062496-54062497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1375523	chr3:54062528-54062529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112166882	chr3:54062531-54062532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54059200-54061600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:54059400-54061200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr3:54059600-54078000	Weak transcription	Right Atrium	heart
4	chr3:54059800-54061600	Enhancers	Fetal Lung	lung
5	chr3:54059800-54061800	Enhancers	Ovary	ovary
6	chr3:54060200-54061200	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:54060200-54061200	Enhancers	Left Ventricle	heart
8	chr3:54060200-54062000	Enhancers	Fetal Muscle Leg	muscle
9	chr3:54060400-54061400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:54060400-54061600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr3:54060600-54061200	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:54061200-54062000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:54061400-54061600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:54062000-54062200	Enhancers	Fetal Muscle Trunk	muscle
15	chr3:54066200-54067000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:54066800-54067000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:54067000-54067600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:54067000-54067800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:54067600-54068200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:54067600-54068200	Enhancers	Placenta	Placenta
21	chr3:54067600-54069600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:54067800-54068000	Enhancers	Esophagus	oesophagus
23	chr3:54067800-54068200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:54067800-54068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:54067800-54069800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:54067800-54069800	Enhancers	HMEC	breast
27	chr3:54068000-54068200	Enhancers	Fetal Muscle Leg	muscle
28	chr3:54068200-54069600	Weak transcription	Esophagus	oesophagus
29	chr3:54069000-54069600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr3:54069600-54069800	Enhancers	Esophagus	oesophagus
31	chr3:54069800-54078000	Weak transcription	Esophagus	oesophagus

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