Variant report

Variant	nsv876808
Chromosome Location	chr3:54459688-54501086
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:54467626..54468675-chr3:54567589..54568828,8	MCF-7	breast:
2	chr3:54467585..54468369-chr3:54511234..54512210,5	MCF-7	breast:
3	chr3:54375174..54375975-chr3:54461350..54461870,2	MCF-7	breast:
4	chr3:54180353..54181315-chr3:54467438..54468079,2	MCF-7	breast:
5	chr3:53975728..53976241-chr3:54467635..54468465,2	MCF-7	breast:
6	chr3:54462064..54462651-chr3:55047338..55047880,2	MCF-7	breast:
7	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
8	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
9	chr3:53972762..53973440-chr3:54466985..54468092,3	MCF-7	breast:
10	chr3:54467613..54468517-chr3:54511646..54512238,3	MCF-7	breast:

No data

Extended variants
information (count: 1050 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4131315	chr3:54459688-54459689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190160621	chr3:54459706-54459707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538585016	chr3:54459714-54459715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558406540	chr3:54459777-54459778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145287734	chr3:54459884-54459885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149151724	chr3:54459918-54459919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563963901	chr3:54459919-54459920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554656592	chr3:54459929-54459930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574402722	chr3:54459930-54459931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542860627	chr3:54459958-54459959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192105722	chr3:54459983-54459984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185024153	chr3:54459997-54459998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143136449	chr3:54460024-54460025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546566728	chr3:54460025-54460026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576324846	chr3:54460122-54460123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560078592	chr3:54460128-54460129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138643436	chr3:54460134-54460135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189358081	chr3:54460178-54460179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542235313	chr3:54460221-54460222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548243940	chr3:54460225-54460226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561071859	chr3:54460233-54460234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7429237	chr3:54460326-54460327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs140427919	chr3:54460339-54460340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546410782	chr3:54460350-54460351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532451853	chr3:54460355-54460356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180932635	chr3:54460387-54460388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185797239	chr3:54460395-54460396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145589289	chr3:54460442-54460443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565793896	chr3:54460481-54460482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534614228	chr3:54460567-54460568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368429067	chr3:54460701-54460702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554238613	chr3:54460758-54460759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369161221	chr3:54460818-54460819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574489914	chr3:54460845-54460846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536779945	chr3:54460957-54460958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557089809	chr3:54460984-54460985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138114925	chr3:54460993-54460994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189440038	chr3:54461071-54461072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553707277	chr3:54461072-54461073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199709145	chr3:54461079-54461080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563734806	chr3:54461089-54461090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532366486	chr3:54461095-54461096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542224857	chr3:54461096-54461097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181430800	chr3:54461126-54461127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530914352	chr3:54461184-54461185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372715827	chr3:54461231-54461232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374740561	chr3:54461286-54461287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564227888	chr3:54461290-54461291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532280228	chr3:54461332-54461333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541140687	chr3:54461367-54461368	Weak transcription Enhancers	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54458200-54463000	Enhancers	Hela-S3	cervix
2	chr3:54458600-54459800	Weak transcription	Brain Germinal Matrix	brain
3	chr3:54458800-54461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:54458800-54461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:54458800-54461800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:54458800-54461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:54458800-54462600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:54459600-54459800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:54459800-54460200	Enhancers	Fetal Muscle Leg	muscle
10	chr3:54459800-54461400	Enhancers	Brain Germinal Matrix	brain
11	chr3:54459800-54462400	Enhancers	Colon Smooth Muscle	Colon
12	chr3:54460000-54462400	Enhancers	HSMMtube	muscle
13	chr3:54460200-54461200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:54460400-54463000	Enhancers	Rectal Smooth Muscle	rectum
15	chr3:54460600-54461000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr3:54460600-54462400	Enhancers	HSMM	muscle
17	chr3:54460600-54463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:54460600-54463600	Enhancers	NHDF-Ad	bronchial
19	chr3:54460800-54461600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:54461000-54461400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:54461000-54461800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:54461000-54463200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:54461200-54462000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:54461200-54463200	Enhancers	Fetal Muscle Leg	muscle
25	chr3:54461400-54461800	Enhancers	NH-A	brain
26	chr3:54461400-54462200	Weak transcription	Brain Germinal Matrix	brain
27	chr3:54461400-54462200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:54461600-54461800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:54461600-54461800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:54461600-54462000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:54461600-54462000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:54461600-54462000	Enhancers	Esophagus	oesophagus
33	chr3:54461600-54462200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:54461600-54462400	Enhancers	Osteobl	bone
35	chr3:54461600-54463400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:54461600-54463400	Enhancers	Fetal Brain Male	brain
37	chr3:54461800-54462000	Flanking Active TSS	NH-A	brain
38	chr3:54461800-54462200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:54461800-54462200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:54461800-54462200	Enhancers	Fetal Brain Female	brain
41	chr3:54461800-54462200	Enhancers	Placenta	Placenta
42	chr3:54461800-54462400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:54461800-54462400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:54461800-54463000	Enhancers	NHLF	lung
45	chr3:54462000-54462200	Enhancers	NH-A	brain
46	chr3:54462000-54462400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:54462000-54462400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:54462000-54462400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:54462000-54462400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:54462000-54462400	Enhancers	Brain Inferior Temporal Lobe	brain

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