Variant report

Variant	nsv819618
Chromosome Location	chr3:141497033-141497917
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	chr3:141497748..141499920-chr3:141499953..141502625,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571411294	chr3:141497036-141497037	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565619405	chr3:141497038-141497039	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181765052	chr3:141497043-141497044	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186188558	chr3:141497044-141497045	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189817337	chr3:141497063-141497064	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542940579	chr3:141497064-141497065	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554122518	chr3:141497068-141497069	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11715715	chr3:141497073-141497074	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182834100	chr3:141497090-141497091	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35145570	chr3:141497106-141497107	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375407859	chr3:141497114-141497115	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369135654	chr3:141497115-141497116	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1533500	chr3:141497120-141497121	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532690516	chr3:141497125-141497126	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377464259	chr3:141497143-141497144	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373761431	chr3:141497149-141497150	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1533501	chr3:141497150-141497151	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs371087666	chr3:141497158-141497159	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563165279	chr3:141497164-141497165	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55712018	chr3:141497168-141497169	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142109851	chr3:141497169-141497170	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199734533	chr3:141497173-141497174	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200671434	chr3:141497178-141497179	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569108851	chr3:141497198-141497199	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527727725	chr3:141497204-141497205	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143776792	chr3:141497231-141497232	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35998945	chr3:141497233-141497234	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34592817	chr3:141497235-141497236	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112016084	chr3:141497252-141497253	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148101386	chr3:141497262-141497263	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370871734	chr3:141497267-141497268	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34537072	chr3:141497268-141497269	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141897427	chr3:141497307-141497308	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150651806	chr3:141497319-141497320	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201493770	chr3:141497337-141497338	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79064253	chr3:141497340-141497341	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143028766	chr3:141497360-141497361	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147427020	chr3:141497362-141497363	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554482696	chr3:141497367-141497368	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34429284	chr3:141497368-141497369	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149923467	chr3:141497377-141497378	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56199819	chr3:141497393-141497394	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370316169	chr3:141497394-141497395	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145001481	chr3:141497403-141497404	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576881901	chr3:141497415-141497416	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200708791	chr3:141497451-141497452	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538597598	chr3:141497453-141497454	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56070798	chr3:141497465-141497466	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34769632	chr3:141497469-141497470	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142108127	chr3:141497483-141497484	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141461800-141498200	Weak transcription	Right Ventricle	heart
2	chr3:141472000-141500800	Weak transcription	Thymus	Thymus
3	chr3:141487200-141497200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:141496800-141497800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:141497200-141497600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:141497800-141505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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