Variant report

Variant	nsv1010956
Chromosome Location	chr3:34833573-34878681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 951 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:951 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17288582	chr3:34833573-34833574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552680119	chr3:34833608-34833609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186077923	chr3:34833612-34833613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564863854	chr3:34833633-34833634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190844075	chr3:34833647-34833648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34054709	chr3:34833765-34833766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530532471	chr3:34833811-34833812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183438199	chr3:34833822-34833823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13095300	chr3:34833827-34833828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187205171	chr3:34833832-34833833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371266323	chr3:34833847-34833848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192129871	chr3:34833879-34833880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565255899	chr3:34833880-34833881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546912040	chr3:34833904-34833905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527948653	chr3:34833905-34833906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116025726	chr3:34833907-34833908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533311137	chr3:34833936-34833937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74733283	chr3:34833941-34833942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570130740	chr3:34834102-34834103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537564385	chr3:34834109-34834110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188349048	chr3:34834113-34834114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567894198	chr3:34834147-34834148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs651154	chr3:34834165-34834166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192761639	chr3:34834185-34834186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578191274	chr3:34834206-34834207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561318403	chr3:34834216-34834217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529706360	chr3:34834252-34834253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556558564	chr3:34834254-34834255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530174137	chr3:34834258-34834259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550244189	chr3:34834263-34834264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574969715	chr3:34834275-34834276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184413676	chr3:34834288-34834289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560738538	chr3:34834310-34834311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573038562	chr3:34834319-34834320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540056380	chr3:34834352-34834353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189339186	chr3:34834384-34834385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147776471	chr3:34834423-34834424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551771707	chr3:34834444-34834445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563701128	chr3:34834485-34834486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531011725	chr3:34834490-34834491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192514170	chr3:34834502-34834503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546275697	chr3:34834513-34834514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs44338	chr3:34834586-34834587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs535175899	chr3:34834590-34834591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532202583	chr3:34834598-34834599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546890168	chr3:34834646-34834647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184933558	chr3:34834672-34834673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371135719	chr3:34834673-34834674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141164581	chr3:34834688-34834689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556521748	chr3:34834750-34834751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34826200-34835200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:34832800-34834000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:34833000-34834200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:34834000-34834800	Enhancers	Fetal Brain Male	brain
5	chr3:34834000-34835200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr3:34834000-34836400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:34834200-34836400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:34835200-34835400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:34835400-34841800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:34836400-34837600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:34837400-34837600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:34837600-34838200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:34837600-34839400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:34838200-34839000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:34838400-34839400	Enhancers	Dnd41	blood
16	chr3:34841400-34843800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:34841800-34842200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:34844800-34850200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:34847600-34848400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:34848800-34849400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:34848800-34850400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:34848800-34850400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:34849000-34850600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:34849000-34850600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:34849200-34849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:34849200-34850400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:34849200-34850600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:34849400-34852600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:34849400-34855200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:34849600-34850400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:34849800-34850000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:34849800-34850400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr3:34850200-34850400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:34850600-34853200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:34852600-34852800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:34853200-34854400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:34855200-34855400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:34873200-34874400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:34874200-34874600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:34874600-34875000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:34874600-34875000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:34875000-34875200	Enhancers	HUES64 Cell Line	embryonic stem cell

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