Variant report

Variant	nsv876807
Chromosome Location	chr3:54453655-54501086
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	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
2	chr3:54467626..54468675-chr3:54567589..54568828,8	MCF-7	breast:
3	chr3:53975728..53976241-chr3:54467635..54468465,2	MCF-7	breast:
4	chr3:54467613..54468517-chr3:54511646..54512238,3	MCF-7	breast:
5	chr3:54467585..54468369-chr3:54511234..54512210,5	MCF-7	breast:
6	chr3:53972762..53973440-chr3:54466985..54468092,3	MCF-7	breast:
7	chr3:54375174..54375975-chr3:54461350..54461870,2	MCF-7	breast:
8	chr3:54462064..54462651-chr3:55047338..55047880,2	MCF-7	breast:
9	chr3:54180353..54181315-chr3:54467438..54468079,2	MCF-7	breast:
10	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:

No data

Extended variants
information (count: 1119 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1119 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528314876	chr3:54458028-54458029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190457591	chr3:54458052-54458053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376596369	chr3:54458061-54458062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547539743	chr3:54458095-54458096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139815622	chr3:54458124-54458125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567888966	chr3:54458127-54458128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183400808	chr3:54458128-54458129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371017532	chr3:54458169-54458170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113730280	chr3:54458204-54458205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550190066	chr3:54458227-54458228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78238387	chr3:54458288-54458289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112370275	chr3:54458373-54458374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80231758	chr3:54458398-54458399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77952377	chr3:54458400-54458401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559134439	chr3:54458508-54458509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566138386	chr3:54458554-54458555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72973133	chr3:54458555-54458556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553902605	chr3:54458582-54458583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573740403	chr3:54458594-54458595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542936643	chr3:54458652-54458653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71993025	chr3:54458658-54458659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556180757	chr3:54458675-54458676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575672841	chr3:54458734-54458735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373392693	chr3:54458741-54458742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538516514	chr3:54458819-54458820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544567360	chr3:54458871-54458872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564645555	chr3:54458881-54458882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557730771	chr3:54458910-54458911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541282944	chr3:54458911-54458912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569671140	chr3:54458919-54458920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137867435	chr3:54458926-54458927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72973135	chr3:54458999-54459000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570352005	chr3:54459036-54459037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149452189	chr3:54459082-54459083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374388016	chr3:54459087-54459088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374614953	chr3:54459094-54459095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552557285	chr3:54459112-54459113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6773250	chr3:54459130-54459131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191357447	chr3:54459137-54459138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535086261	chr3:54459155-54459156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554745157	chr3:54459185-54459186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567501391	chr3:54459193-54459194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536049163	chr3:54459220-54459221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116703521	chr3:54459282-54459283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35204225	chr3:54459287-54459288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148635775	chr3:54459306-54459307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555874505	chr3:54459313-54459314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55835791	chr3:54459331-54459332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558097433	chr3:54459332-54459333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530179496	chr3:54459335-54459336	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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54458000-54458800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:54458200-54458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:54458200-54463000	Enhancers	Hela-S3	cervix
4	chr3:54458400-54458600	Enhancers	Brain Germinal Matrix	brain
5	chr3:54458400-54458800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:54458400-54458800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:54458400-54458800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:54458400-54458800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:54458400-54458800	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:54458600-54459800	Weak transcription	Brain Germinal Matrix	brain
11	chr3:54458800-54461600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:54458800-54461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:54458800-54461800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:54458800-54461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:54458800-54462600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:54459600-54459800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:54459800-54460200	Enhancers	Fetal Muscle Leg	muscle
18	chr3:54459800-54461400	Enhancers	Brain Germinal Matrix	brain
19	chr3:54459800-54462400	Enhancers	Colon Smooth Muscle	Colon
20	chr3:54460000-54462400	Enhancers	HSMMtube	muscle
21	chr3:54460200-54461200	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:54460400-54463000	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:54460600-54461000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:54460600-54462400	Enhancers	HSMM	muscle
25	chr3:54460600-54463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:54460600-54463600	Enhancers	NHDF-Ad	bronchial
27	chr3:54460800-54461600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:54461000-54461400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:54461000-54461800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:54461000-54463200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:54461200-54462000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr3:54461200-54463200	Enhancers	Fetal Muscle Leg	muscle
33	chr3:54461400-54461800	Enhancers	NH-A	brain
34	chr3:54461400-54462200	Weak transcription	Brain Germinal Matrix	brain
35	chr3:54461400-54462200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr3:54461600-54461800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:54461600-54461800	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:54461600-54462000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:54461600-54462000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:54461600-54462000	Enhancers	Esophagus	oesophagus
41	chr3:54461600-54462200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:54461600-54462400	Enhancers	Osteobl	bone
43	chr3:54461600-54463400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:54461600-54463400	Enhancers	Fetal Brain Male	brain
45	chr3:54461800-54462000	Flanking Active TSS	NH-A	brain
46	chr3:54461800-54462200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:54461800-54462200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:54461800-54462200	Enhancers	Fetal Brain Female	brain
49	chr3:54461800-54462200	Enhancers	Placenta	Placenta
50	chr3:54461800-54462400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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