Variant report

Variant	nsv4047
Chromosome Location	chr3:146368154-146401858
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	chr12:52448335..52448943-chr3:146400166..146400666,2	Hela-S3	cervix:
2	chr3:146363988..146366306-chr3:146367087..146369602,2	K562	blood:

Extended variants
information (count: 686 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35603424	chr3:146368178-146368179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9842222	chr3:146368187-146368188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184295094	chr3:146368223-146368224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377281508	chr3:146368252-146368253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574520367	chr3:146368267-146368268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55761292	chr3:146368279-146368280	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560251548	chr3:146368282-146368283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141516059	chr3:146368284-146368285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373532094	chr3:146368287-146368288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545791203	chr3:146368368-146368369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565600318	chr3:146368480-146368481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532679313	chr3:146368502-146368503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539928382	chr3:146368517-146368518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150890321	chr3:146368522-146368523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138431340	chr3:146368548-146368549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190757491	chr3:146368559-146368560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558135371	chr3:146368581-146368582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149279626	chr3:146368602-146368603	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566597859	chr3:146368634-146368635	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533959706	chr3:146368700-146368701	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111806489	chr3:146368704-146368705	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3048185	chr3:146368705-146368706	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35635109	chr3:146368716-146368717	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181959076	chr3:146368717-146368718	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78008395	chr3:146368741-146368742	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7431196	chr3:146368746-146368747	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7427276	chr3:146368747-146368748	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537744893	chr3:146368748-146368749	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556374406	chr3:146368749-146368750	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556128886	chr3:146368761-146368762	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574557477	chr3:146368813-146368814	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574155322	chr3:146368827-146368828	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs369767892	chr3:146368859-146368860	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114524278	chr3:146368863-146368864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115355611	chr3:146368909-146368910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146171927	chr3:146368918-146368919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs188746741	chr3:146368920-146368921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139114682	chr3:146368982-146368983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs114312261	chr3:146369001-146369002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62275408	chr3:146369080-146369081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530250619	chr3:146369135-146369136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9847565	chr3:146369166-146369167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560247609	chr3:146369179-146369180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571064592	chr3:146369235-146369236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367620354	chr3:146369255-146369256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181542222	chr3:146369294-146369295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373726383	chr3:146369323-146369324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144123861	chr3:146369377-146369378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146033931	chr3:146369382-146369383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538200381	chr3:146369445-146369446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146361400-146370800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:146361400-146371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:146362600-146372800	Weak transcription	Dnd41	blood
4	chr3:146368200-146368600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:146368400-146369600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:146368600-146369000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:146368600-146369600	Enhancers	Adipose Nuclei	Adipose
8	chr3:146368800-146369000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:146368800-146369000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:146368800-146369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:146369000-146371000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:146369000-146373000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:146369600-146370600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:146369600-146370600	Weak transcription	Adipose Nuclei	Adipose
15	chr3:146370600-146370800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:146370600-146370800	Enhancers	Adipose Nuclei	Adipose
17	chr3:146370600-146371600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:146370600-146373400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:146370800-146371400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:146370800-146373200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:146371400-146373200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:146371600-146372000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr3:146371600-146373000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:146371600-146373400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:146371800-146372400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr3:146372000-146373400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:146372800-146373600	Enhancers	Liver	Liver
28	chr3:146372800-146374200	Enhancers	Dnd41	blood
29	chr3:146372800-146374400	Enhancers	HepG2	liver
30	chr3:146373000-146373400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:146373000-146373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:146373000-146373800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:146373200-146373400	Enhancers	Ovary	ovary
34	chr3:146373200-146373600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:146373400-146375400	Weak transcription	Ovary	ovary
36	chr3:146373400-146376200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:146374200-146375600	Weak transcription	Dnd41	blood
38	chr3:146374400-146375600	Weak transcription	HepG2	liver
39	chr3:146375400-146376400	Enhancers	Ovary	ovary
40	chr3:146375600-146376400	Enhancers	Dnd41	blood
41	chr3:146375600-146376800	Enhancers	HepG2	liver
42	chr3:146376000-146376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:146376000-146376800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr3:146376200-146376400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:146376200-146376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:146377000-146377400	Weak transcription	Dnd41	blood
47	chr3:146377600-146378600	Enhancers	Dnd41	blood
48	chr3:146382000-146382400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr3:146386800-146387400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:146395000-146397600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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