Variant report

Variant	nsv965187
Chromosome Location	chr3:93650449-93650949
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	chr3:93650076..93652154-chr3:93653341..93655975,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560733368	chr3:93650472-93650473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115996372	chr3:93650491-93650492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6803590	chr3:93650508-93650509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs571408699	chr3:93650527-93650528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537160537	chr3:93650542-93650543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150417437	chr3:93650550-93650551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188684248	chr3:93650578-93650579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6795524	chr3:93650604-93650605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536028372	chr3:93650611-93650612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143197942	chr3:93650615-93650616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34132668	chr3:93650637-93650638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575890787	chr3:93650685-93650686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572777230	chr3:93650745-93650746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538692532	chr3:93650778-93650779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558517223	chr3:93650779-93650780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575195426	chr3:93650784-93650785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539611741	chr3:93650844-93650845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192826183	chr3:93650889-93650890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539993995	chr3:93650933-93650934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185054944	chr3:93650938-93650939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541062335	chr3:93650944-93650945	Weak transcription Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93633200-93650800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:93633200-93653200	Weak transcription	HepG2	liver
3	chr3:93635200-93653600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:93637000-93650600	Weak transcription	Aorta	Aorta
5	chr3:93642200-93653800	Weak transcription	K562	blood
6	chr3:93642600-93651600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:93649000-93652200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:93649200-93651800	Enhancers	Liver	Liver
9	chr3:93649800-93650800	Weak transcription	Fetal Heart	heart
10	chr3:93650400-93650800	Enhancers	Right Atrium	heart
11	chr3:93650400-93651000	Enhancers	Left Ventricle	heart
12	chr3:93650600-93650800	Enhancers	Aorta	Aorta
13	chr3:93650800-93651000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:93650800-93651400	Enhancers	Fetal Heart	heart

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