Variant report

Variant	nsv522779
Chromosome Location	chr3:54793450-54803521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 489 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7636321	chr3:54793450-54793451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559269821	chr3:54793459-54793460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532917590	chr3:54793465-54793466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386661078	chr3:54793488-54793489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79206974	chr3:54793508-54793509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78629614	chr3:54793509-54793510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572655713	chr3:54793518-54793519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78128932	chr3:54793521-54793522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62254479	chr3:54793523-54793524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535180970	chr3:54793539-54793540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554857418	chr3:54793543-54793544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371822758	chr3:54793548-54793549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551544959	chr3:54793558-54793559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575025141	chr3:54793622-54793623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73074128	chr3:54793652-54793653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147989913	chr3:54793658-54793659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576791942	chr3:54793692-54793693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545796786	chr3:54793724-54793725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565146085	chr3:54793749-54793750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527581738	chr3:54793765-54793766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58580255	chr3:54793839-54793840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115258534	chr3:54793850-54793851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549776704	chr3:54793857-54793858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529947728	chr3:54793871-54793872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369232645	chr3:54793912-54793913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74760331	chr3:54793913-54793914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532101496	chr3:54793926-54793927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141636196	chr3:54793961-54793962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150501456	chr3:54793966-54793967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190661197	chr3:54793977-54793978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535005314	chr3:54793978-54793979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555272906	chr3:54793996-54793997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139515909	chr3:54794033-54794034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35446260	chr3:54794075-54794076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182886470	chr3:54794091-54794092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189178731	chr3:54794093-54794094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556988873	chr3:54794101-54794102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144299446	chr3:54794106-54794107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545932526	chr3:54794113-54794114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553088730	chr3:54794131-54794132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371833799	chr3:54794155-54794156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573215753	chr3:54794208-54794209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540950132	chr3:54794238-54794239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57390516	chr3:54794266-54794267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397693544	chr3:54794271-54794272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78574378	chr3:54794304-54794305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372382472	chr3:54794317-54794318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529884037	chr3:54794374-54794375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554114822	chr3:54794377-54794378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543647902	chr3:54794446-54794447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	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
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 mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54784600-54797200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:54785200-54793800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:54785800-54798200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:54787400-54800200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:54787600-54804600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:54789400-54793800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:54790000-54794400	Enhancers	Fetal Stomach	stomach
8	chr3:54790600-54794600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:54790800-54793600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:54790800-54794200	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:54791400-54794000	Weak transcription	NH-A	brain
12	chr3:54791400-54794000	Weak transcription	NHDF-Ad	bronchial
13	chr3:54791800-54794200	Weak transcription	NHLF	lung
14	chr3:54792800-54793800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:54793000-54793800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:54793600-54794600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:54793800-54794200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr3:54793800-54794400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:54793800-54794400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:54793800-54794400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:54793800-54795800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:54793800-54796600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:54794000-54794600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:54794000-54794600	Enhancers	NH-A	brain
25	chr3:54794000-54796200	Enhancers	NHDF-Ad	bronchial
26	chr3:54794200-54795000	Enhancers	Fetal Muscle Leg	muscle
27	chr3:54794200-54796200	Enhancers	NHLF	lung
28	chr3:54794200-54806800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr3:54794400-54795600	Weak transcription	Fetal Stomach	stomach
30	chr3:54794400-54795800	Enhancers	Psoas Muscle	Psoas
31	chr3:54794400-54801400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:54794400-54806600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:54794600-54795000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:54794600-54795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:54794600-54795800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:54795000-54795800	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:54795600-54795800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:54795600-54796200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:54795600-54796400	Enhancers	Fetal Stomach	stomach
40	chr3:54795800-54796200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:54795800-54796200	Enhancers	Fetal Muscle Leg	muscle
42	chr3:54795800-54801200	Weak transcription	Psoas Muscle	Psoas
43	chr3:54796200-54806000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:54796400-54798800	Weak transcription	Fetal Stomach	stomach
45	chr3:54798000-54798200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:54798200-54798400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:54798200-54798400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr3:54798400-54803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:54798600-54799400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:54798800-54799800	Enhancers	Fetal Stomach	stomach

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