Variant report

Variant	nsv591202
Chromosome Location	chr3:103394499-103487522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
2	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
3	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
4	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:

Extended variants
information (count: 997 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6803099	chr3:103394499-103394500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554550210	chr3:103394522-103394523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575897617	chr3:103394530-103394531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543510476	chr3:103394636-103394637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564937882	chr3:103394638-103394639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577131579	chr3:103394643-103394644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144579434	chr3:103394671-103394672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148479321	chr3:103394754-103394755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6441755	chr3:103394757-103394758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549155414	chr3:103394795-103394796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6441756	chr3:103394836-103394837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142840532	chr3:103394841-103394842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549886382	chr3:103394855-103394856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373522736	chr3:103394897-103394898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185085373	chr3:103394908-103394909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6441757	chr3:103394943-103394944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs547577873	chr3:103394953-103394954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566294206	chr3:103394985-103394986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115720360	chr3:103394987-103394988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189417093	chr3:103395002-103395003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569647316	chr3:103395048-103395049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537018357	chr3:103395070-103395071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558715939	chr3:103395085-103395086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150609086	chr3:103395126-103395127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7613320	chr3:103395146-103395147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs56803842	chr3:103395182-103395183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553201824	chr3:103395186-103395187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140094447	chr3:103395205-103395206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61376333	chr3:103395213-103395214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs78006920	chr3:103395219-103395220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576125249	chr3:103395224-103395225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533627051	chr3:103395238-103395239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531758767	chr3:103395245-103395246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58981210	chr3:103395272-103395273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs143657253	chr3:103395286-103395287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532464116	chr3:103395325-103395326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547436459	chr3:103395342-103395343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192280217	chr3:103395362-103395363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60391961	chr3:103395375-103395376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548887571	chr3:103395405-103395406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570232744	chr3:103395442-103395443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146853521	chr3:103395469-103395470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544093161	chr3:103395477-103395478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58164073	chr3:103395486-103395487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140643820	chr3:103395538-103395539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144392919	chr3:103395572-103395573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534710907	chr3:103395587-103395588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60362687	chr3:103395591-103395592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574595580	chr3:103395602-103395603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541636820	chr3:103395619-103395620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	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
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103383800-103395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:103393800-103409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:103403200-103404000	Enhancers	Fetal Lung	lung
4	chr3:103403800-103404200	Enhancers	Fetal Kidney	kidney
5	chr3:103404200-103404600	Enhancers	Fetal Heart	heart
6	chr3:103409000-103410200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:103423200-103424800	Enhancers	Fetal Heart	heart
10	chr3:103425400-103426200	Enhancers	NHEK	skin
11	chr3:103425400-103426400	Enhancers	HMEC	breast
12	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:103426200-103430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:103426200-103430800	Weak transcription	NHEK	skin
16	chr3:103426200-103431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:103426400-103431000	Weak transcription	HMEC	breast
18	chr3:103427600-103427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:103430800-103431200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:103430800-103431800	Enhancers	HUVEC	blood vessel
21	chr3:103430800-103431800	Enhancers	NHEK	skin
22	chr3:103431000-103431400	Enhancers	HMEC	breast
23	chr3:103431000-103431800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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