Variant report

Variant	esv3370474
Chromosome Location	chr3:190677299-190701054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 937 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141420778	chr3:190677383-190677384	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112237886	chr3:190677385-190677386	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191954984	chr3:190677400-190677401	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377687134	chr3:190677425-190677426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551882853	chr3:190677431-190677432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73067847	chr3:190677465-190677466	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183290566	chr3:190677508-190677509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187203080	chr3:190677523-190677524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567886767	chr3:190677597-190677598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190056796	chr3:190677612-190677613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113281403	chr3:190677700-190677701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182474920	chr3:190677710-190677711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576719979	chr3:190677766-190677767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546128641	chr3:190677833-190677834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532438221	chr3:190677839-190677840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572439634	chr3:190677850-190677851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145135300	chr3:190677892-190677893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541136111	chr3:190677957-190677958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148339240	chr3:190677982-190677983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77275097	chr3:190677990-190677991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554269156	chr3:190678033-190678034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544018407	chr3:190678091-190678092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563919094	chr3:190678103-190678104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532671132	chr3:190678168-190678169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377674182	chr3:190678176-190678177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73067849	chr3:190678216-190678217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552447115	chr3:190678231-190678232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540631920	chr3:190678261-190678262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186753128	chr3:190678292-190678293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547834976	chr3:190678296-190678297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567825602	chr3:190678360-190678361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192609259	chr3:190678396-190678397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9821713	chr3:190678438-190678439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570655316	chr3:190678440-190678441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536582592	chr3:190678463-190678464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201418332	chr3:190678479-190678480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59966036	chr3:190678481-190678482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539339461	chr3:190678504-190678505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553251640	chr3:190678522-190678523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572301643	chr3:190678531-190678532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147254406	chr3:190678582-190678583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541442979	chr3:190678585-190678586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565832464	chr3:190678609-190678610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60848251	chr3:190678610-190678611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12633560	chr3:190678616-190678617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs73067850	chr3:190678632-190678633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551123720	chr3:190678688-190678689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563037402	chr3:190678715-190678716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9842055	chr3:190678743-190678744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141740208	chr3:190678794-190678795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:190677000-190677400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr3:190677000-190677800	Enhancers	Fetal Intestine Large	intestine
3	chr3:190677400-190682800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:190681200-190681800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:190681800-190682000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:190681800-190682000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:190681800-190682200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:190681800-190682400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:190682000-190682800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:190682000-190682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:190682400-190683200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:190682400-190683400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:190682400-190683400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:190682400-190683400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr3:190682400-190683400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:190682400-190683400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:190682800-190683200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:190682800-190683200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:190682800-190683200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:190682800-190683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:190682800-190683200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:190682800-190683200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:190682800-190683200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:190682800-190683200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr3:190682800-190683200	Active TSS	Placenta	Placenta
26	chr3:190682800-190683200	Active TSS	Fetal Stomach	stomach
27	chr3:190682800-190683400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:190682800-190683400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr3:190682800-190683400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:190682800-190683400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:190682800-190683400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr3:190682800-190683400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:190682800-190683400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:190682800-190683400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:190683200-190684800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:190683400-190685600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:190683400-190686000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:190683400-190686000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:190683400-190686000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:190683400-190686200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:190683400-190686200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:190684800-190685200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:190685200-190686200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:190686000-190686800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:190686000-190687000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr3:190686000-190687200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:190686200-190686400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:190686200-190686800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:190686200-190687200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:190689400-190692600	Enhancers	Muscle Satellite Cultured Cells	--

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