Variant report

Variant	nsv518817
Chromosome Location	chr3:134478108-134486080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 322 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6767950	chr3:134478108-134478109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566348420	chr3:134478193-134478194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182881127	chr3:134478200-134478201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374932087	chr3:134478220-134478221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529745353	chr3:134478297-134478298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141622184	chr3:134478327-134478328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536345333	chr3:134478378-134478379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555795038	chr3:134478381-134478382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6804153	chr3:134478439-134478440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs73861938	chr3:134478515-134478516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs9828197	chr3:134478522-134478523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs16842006	chr3:134478555-134478556	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557983942	chr3:134478619-134478620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540905145	chr3:134478630-134478631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554742430	chr3:134478641-134478642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574498485	chr3:134478731-134478732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543942344	chr3:134478760-134478761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563735524	chr3:134478763-134478764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532570248	chr3:134478780-134478781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563891620	chr3:134478811-134478812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148357346	chr3:134478881-134478882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367669248	chr3:134478900-134478901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75274791	chr3:134478917-134478918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35026822	chr3:134478918-134478919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77842982	chr3:134478919-134478920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60621239	chr3:134478922-134478923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533279378	chr3:134478931-134478932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546868554	chr3:134478933-134478934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6807008	chr3:134478970-134478971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs548545579	chr3:134479046-134479047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190967858	chr3:134479101-134479102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530973738	chr3:134479144-134479145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549481213	chr3:134479148-134479149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111686932	chr3:134479181-134479182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138300334	chr3:134479190-134479191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558115891	chr3:134479192-134479193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143882038	chr3:134479213-134479214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565878214	chr3:134479216-134479217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534918049	chr3:134479217-134479218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16842007	chr3:134479281-134479282	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs548747768	chr3:134479290-134479291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574587380	chr3:134479300-134479301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182752167	chr3:134479323-134479324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187487859	chr3:134479349-134479350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147242700	chr3:134479435-134479436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17695280	chr3:134479474-134479475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs376258919	chr3:134479529-134479530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140851318	chr3:134479562-134479563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559695481	chr3:134479587-134479588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144698138	chr3:134479593-134479594	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
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
Multiple myeloma	17550852	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
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134477800-134478800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr3:134478800-134479200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:134479200-134481200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr3:134479400-134480400	Enhancers	Fetal Brain Female	brain
5	chr3:134479600-134480400	Enhancers	Fetal Brain Male	brain
6	chr3:134479600-134480400	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:134479600-134480600	Enhancers	Fetal Muscle Leg	muscle
8	chr3:134479800-134480600	Enhancers	Fetal Heart	heart
9	chr3:134480000-134481400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr3:134480200-134480400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:134480200-134481200	Enhancers	Psoas Muscle	Psoas
12	chr3:134480200-134481200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:134480600-134481200	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:134481200-134481400	Enhancers	Fetal Muscle Leg	muscle
15	chr3:134481200-134484400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:134484400-134489800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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