Variant report

Variant	nsv963272
Chromosome Location	chr3:98769494-98794208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539658930	chr3:98785805-98785806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556297460	chr3:98785810-98785811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552677958	chr3:98785812-98785813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116823576	chr3:98785841-98785842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183836738	chr3:98785950-98785951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188900163	chr3:98786008-98786009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532389062	chr3:98786011-98786012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113325534	chr3:98786038-98786039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564240980	chr3:98786049-98786050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570567981	chr3:98786060-98786061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533225718	chr3:98786123-98786124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535513043	chr3:98786152-98786153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113183007	chr3:98786158-98786159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77598715	chr3:98786203-98786204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529091174	chr3:98786226-98786227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6806979	chr3:98786227-98786228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs1038271	chr3:98786243-98786244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75316496	chr3:98786249-98786250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551321338	chr3:98786295-98786296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11924795	chr3:98786308-98786309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571066876	chr3:98786422-98786423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148015971	chr3:98786468-98786469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539695661	chr3:98786484-98786485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140765443	chr3:98786521-98786522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1038272	chr3:98786529-98786530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192345674	chr3:98786544-98786545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367789112	chr3:98786567-98786568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376315315	chr3:98786574-98786575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371809723	chr3:98786577-98786578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572471719	chr3:98786583-98786584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1038273	chr3:98786601-98786602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs150100136	chr3:98786625-98786626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184355183	chr3:98786789-98786790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188607564	chr3:98786845-98786846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78654017	chr3:98786850-98786851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573748868	chr3:98786862-98786863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563558960	chr3:98786863-98786864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs33934228	chr3:98786864-98786865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529129806	chr3:98786882-98786883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542779027	chr3:98786885-98786886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559199780	chr3:98786891-98786892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191622080	chr3:98786910-98786911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375376260	chr3:98786912-98786913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551092085	chr3:98786981-98786982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570955457	chr3:98786992-98786993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530413992	chr3:98787016-98787017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550092533	chr3:98787061-98787062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564838648	chr3:98787071-98787072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375661174	chr3:98787078-98787079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147318735	chr3:98787101-98787102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98785800-98790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:98789000-98790200	Enhancers	Fetal Brain Male	brain
3	chr3:98789400-98789600	Enhancers	Brain Cingulate Gyrus	brain
4	chr3:98789400-98790200	Enhancers	Brain Angular Gyrus	brain
5	chr3:98789400-98791000	Enhancers	Brain Substantia Nigra	brain
6	chr3:98789400-98791200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:98789800-98790200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:98789800-98790600	Enhancers	HMEC	breast
9	chr3:98789800-98790800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:98790400-98791200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:98790800-98791000	Enhancers	Aorta	Aorta
12	chr3:98790800-98791200	Enhancers	Brain Cingulate Gyrus	brain

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