Variant report

Variant	nsv877166
Chromosome Location	chr3:94091142-94146460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1377 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1377 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9847612	chr3:94091142-94091143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577769242	chr3:94091155-94091156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563461115	chr3:94091248-94091249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376465806	chr3:94091275-94091276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575518527	chr3:94091279-94091280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538177483	chr3:94091287-94091288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143004600	chr3:94091328-94091329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376748053	chr3:94091337-94091338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9843361	chr3:94091416-94091417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147391841	chr3:94091419-94091420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368854696	chr3:94091423-94091424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540478037	chr3:94091439-94091440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185924966	chr3:94091447-94091448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148220528	chr3:94091458-94091459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544986525	chr3:94091481-94091482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141187546	chr3:94091550-94091551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150249779	chr3:94091566-94091567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544563116	chr3:94091599-94091600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190884481	chr3:94091601-94091602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139282335	chr3:94091619-94091620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546499747	chr3:94091692-94091693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372144805	chr3:94091720-94091721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377074409	chr3:94091734-94091735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201825516	chr3:94091755-94091756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34032083	chr3:94091760-94091761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182150373	chr3:94091810-94091811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187234513	chr3:94091817-94091818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560606717	chr3:94091908-94091909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552132878	chr3:94091973-94091974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568959555	chr3:94092049-94092050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190762477	chr3:94092123-94092124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555201609	chr3:94092183-94092184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574064829	chr3:94092201-94092202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369710739	chr3:94092207-94092208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534372070	chr3:94092222-94092223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201045895	chr3:94092298-94092299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1492016	chr3:94092334-94092335	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143190101	chr3:94092390-94092391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77468909	chr3:94092422-94092423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11713968	chr3:94092460-94092461	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs74507111	chr3:94092538-94092539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374776711	chr3:94092573-94092574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544230973	chr3:94092601-94092602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542687891	chr3:94092655-94092656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9853815	chr3:94092681-94092682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs375764751	chr3:94092694-94092695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7650243	chr3:94092738-94092739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147549155	chr3:94092749-94092750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199895168	chr3:94092752-94092753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532433235	chr3:94092770-94092771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94084800-94093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:94089800-94094000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:94090000-94091600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:94090000-94092400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:94090800-94091600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:94091000-94093800	Enhancers	Fetal Heart	heart
7	chr3:94092000-94092400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:94092000-94094000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:94092200-94093200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:94092200-94094000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:94092400-94093200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:94092400-94093600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:94092400-94093800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr3:94092400-94093800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:94092400-94094000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:94092600-94094000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:94093200-94093400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:94093200-94093400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr3:94093200-94093400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:94093200-94093600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:94093200-94093600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:94093200-94094000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:94093400-94093600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:94093400-94093600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:94093400-94093800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:94093600-94093800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:94093600-94093800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr3:94093600-94096200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:94093800-94094000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:94093800-94094800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:94093800-94095800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:94093800-94096200	Weak transcription	Fetal Heart	heart
33	chr3:94094000-94095000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:94094000-94095400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr3:94094000-94096000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:94094000-94096600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:94094800-94096600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:94095000-94096600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr3:94095400-94095800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr3:94095800-94096800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:94096000-94096800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr3:94096200-94096600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:94096200-94096600	Enhancers	Fetal Heart	heart
44	chr3:94096200-94096800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr3:94096600-94096800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:94097800-94098200	Enhancers	Fetal Intestine Large	intestine
47	chr3:94102200-94102600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:94102200-94102600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:94102400-94102600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:94112600-94132200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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