Variant report

Variant	nsv1012854
Chromosome Location	chr3:110333519-110356714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:110337784..110340050-chr3:110340181..110342150,2	MCF-7	breast:
2	chr3:110337784..110340050-chr3:110340181..110342150,2	MCF-7	breast:

Extended variants
information (count: 716 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140969927	chr3:110333603-110333604	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528591952	chr3:110333732-110333733	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370162094	chr3:110333733-110333734	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs547154787	chr3:110333737-110333738	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547412790	chr3:110333763-110333764	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560905654	chr3:110333764-110333765	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145071151	chr3:110333771-110333772	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550126124	chr3:110333846-110333847	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376662976	chr3:110333883-110333884	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1512537	chr3:110333928-110333929	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146809000	chr3:110333957-110333958	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571671000	chr3:110333987-110333988	Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570404889	chr3:110336832-110336833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539568222	chr3:110336989-110336990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370379843	chr3:110336999-110337000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374885073	chr3:110337045-110337046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552535912	chr3:110337072-110337073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558266087	chr3:110337085-110337086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551305359	chr3:110337091-110337092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139932662	chr3:110337105-110337106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114037546	chr3:110337111-110337112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183334698	chr3:110337142-110337143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575501149	chr3:110337198-110337199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143371474	chr3:110337199-110337200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2055965	chr3:110337211-110337212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577255512	chr3:110337216-110337217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146829235	chr3:110337231-110337232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559764662	chr3:110337280-110337281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140614697	chr3:110337283-110337284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113109470	chr3:110337310-110337311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562204397	chr3:110337326-110337327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531240298	chr3:110337328-110337329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1398352	chr3:110337348-110337349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571067359	chr3:110337391-110337392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532840858	chr3:110337416-110337417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546261407	chr3:110337421-110337422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573637402	chr3:110337436-110337437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115105297	chr3:110337481-110337482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114375354	chr3:110337491-110337492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562743585	chr3:110337546-110337547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554944353	chr3:110337549-110337550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35965285	chr3:110337572-110337573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370179997	chr3:110337581-110337582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538178007	chr3:110337703-110337704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9844680	chr3:110337794-110337795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577799712	chr3:110337822-110337823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531817687	chr3:110337823-110337824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143684503	chr3:110337848-110337849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553471272	chr3:110337849-110337850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573384966	chr3:110337860-110337861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110333600-110333800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110333600-110334000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:110333800-110334000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:110336800-110338200	Enhancers	Liver	Liver
5	chr3:110337400-110337600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:110337400-110337600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:110337400-110338000	Enhancers	Stomach Mucosa	stomach
8	chr3:110337600-110338200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:110337600-110338200	Enhancers	Fetal Heart	heart
10	chr3:110337600-110338600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:110338000-110345600	Weak transcription	Stomach Mucosa	stomach
12	chr3:110338200-110338600	Weak transcription	Fetal Heart	heart
13	chr3:110338200-110340000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:110338200-110342200	Weak transcription	Liver	Liver
15	chr3:110338600-110339000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:110338600-110339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:110338600-110339400	Enhancers	K562	blood
18	chr3:110338600-110340000	Enhancers	Fetal Heart	heart
19	chr3:110339000-110343400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:110339400-110343800	Weak transcription	K562	blood
21	chr3:110340000-110342200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:110340000-110343400	Weak transcription	Fetal Heart	heart
23	chr3:110341600-110341800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:110341800-110342600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr3:110342200-110342600	Enhancers	Liver	Liver
26	chr3:110342200-110342600	Enhancers	A549	lung
27	chr3:110342200-110342800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:110342600-110342800	Enhancers	Gastric	stomach
29	chr3:110342600-110345200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr3:110342600-110345400	Weak transcription	Liver	Liver
31	chr3:110342800-110343400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:110342800-110343800	Weak transcription	Gastric	stomach
33	chr3:110343400-110345200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:110343400-110345200	Enhancers	Fetal Heart	heart
35	chr3:110343400-110345400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:110343600-110344400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:110343600-110345000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:110343600-110345000	Enhancers	Fetal Lung	lung
39	chr3:110343800-110344200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:110343800-110344200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:110343800-110344200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:110343800-110344200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr3:110343800-110344200	Enhancers	Placenta	Placenta
44	chr3:110343800-110344200	Enhancers	Gastric	stomach
45	chr3:110343800-110344200	Enhancers	Pancreas	Pancrea
46	chr3:110343800-110344200	Enhancers	K562	blood
47	chr3:110343800-110344400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:110343800-110344600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:110343800-110344600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:110343800-110344600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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