Variant report

Variant	nsv979855
Chromosome Location	chr3:93596658-93604726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565996004	chr3:93596742-93596743	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565393966	chr3:93596756-93596757	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549831566	chr3:93596797-93596798	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150958928	chr3:93596809-93596810	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551158800	chr3:93596813-93596814	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533788058	chr3:93596839-93596840	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs34192336	chr3:93596854-93596855	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567718613	chr3:93596874-93596875	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530463879	chr3:93596907-93596908	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189599158	chr3:93596930-93596931	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140754970	chr3:93596945-93596946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs546973652	chr3:93596959-93596960	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372952697	chr3:93596975-93596976	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555024634	chr3:93596988-93596989	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573723371	chr3:93597074-93597075	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534300216	chr3:93597095-93597096	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145860015	chr3:93597197-93597198	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34265717	chr3:93597210-93597211	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571033494	chr3:93597285-93597286	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543972062	chr3:93597305-93597306	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182211854	chr3:93597314-93597315	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs112977452	chr3:93597339-93597340	Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs573746711	chr3:93597428-93597429	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143966911	chr3:93597429-93597430	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs62266143	chr3:93597492-93597493	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553283480	chr3:93597546-93597547	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564730533	chr3:93597564-93597565	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532395926	chr3:93597568-93597569	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573308479	chr3:93597622-93597623	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532503725	chr3:93597649-93597650	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs545439917	chr3:93597666-93597667	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12488200	chr3:93597667-93597668	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs575701360	chr3:93597690-93597691	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs370365758	chr3:93597710-93597711	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs577896582	chr3:93597778-93597779	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs78700585	chr3:93597823-93597824	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544369648	chr3:93597857-93597858	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561573668	chr3:93597891-93597892	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530208158	chr3:93597913-93597914	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199469502	chr3:93597935-93597936	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375683964	chr3:93597936-93597937	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370949233	chr3:93597978-93597979	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369284039	chr3:93597989-93597990	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146913514	chr3:93598003-93598004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532641819	chr3:93598007-93598008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55897523	chr3:93598055-93598056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371028997	chr3:93598057-93598058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143448451	chr3:93598072-93598073	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373336653	chr3:93598098-93598099	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199469500	chr3:93598108-93598109	Weak transcription Enhancers Strong 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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93581400-93611000	Weak transcription	Aorta	Aorta
2	chr3:93589000-93600000	Weak transcription	Left Ventricle	heart
3	chr3:93590400-93602600	Weak transcription	Adipose Nuclei	Adipose
4	chr3:93591000-93610200	Weak transcription	Ovary	ovary
5	chr3:93591000-93614200	Strong transcription	Liver	Liver
6	chr3:93594400-93597000	Weak transcription	Psoas Muscle	Psoas
7	chr3:93594400-93610600	Weak transcription	Lung	lung
8	chr3:93594600-93632800	Weak transcription	HepG2	liver
9	chr3:93595800-93597000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:93596200-93598600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:93596200-93611000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:93596400-93596800	Enhancers	HMEC	breast
13	chr3:93596400-93598000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:93596400-93598200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:93596600-93597000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr3:93596600-93597400	Enhancers	HSMMtube	muscle
17	chr3:93596600-93597400	Enhancers	NHEK	skin
18	chr3:93596600-93597800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:93596600-93598000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:93596800-93597000	Flanking Active TSS	HMEC	breast
21	chr3:93596800-93597800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:93596800-93598200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:93597000-93597400	Active TSS	HMEC	breast
24	chr3:93597000-93597600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr3:93597000-93598000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:93597000-93598400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:93597400-93597600	Flanking Active TSS	HMEC	breast
28	chr3:93597400-93597800	Flanking Active TSS	NHEK	skin
29	chr3:93597400-93612400	Weak transcription	HSMMtube	muscle
30	chr3:93597400-93629200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr3:93597600-93598200	Enhancers	HMEC	breast
32	chr3:93597600-93609800	Weak transcription	Fetal Intestine Small	intestine
33	chr3:93597800-93598000	Enhancers	NHEK	skin
34	chr3:93597800-93628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:93598000-93598600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:93598000-93601200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr3:93598000-93603000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:93598400-93598600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:93598600-93602200	Weak transcription	Fetal Intestine Large	intestine
40	chr3:93598600-93602600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:93598600-93602800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:93600000-93600200	ZNF genes & repeats	Left Ventricle	heart
43	chr3:93600200-93601600	Weak transcription	Left Ventricle	heart
44	chr3:93600400-93600600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:93601200-93602000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:93601200-93613200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:93601600-93601800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:93601600-93602000	Strong transcription	Left Ventricle	heart
49	chr3:93601800-93625200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:93601800-93627200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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