Variant report

Variant	nsv524029
Chromosome Location	chr3:118154526-118157095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4688104	chr3:118154526-118154527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4688105	chr3:118154533-118154534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181109119	chr3:118154557-118154558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546816752	chr3:118154566-118154567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114517649	chr3:118154587-118154588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551437962	chr3:118154641-118154642	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538910688	chr3:118154862-118154863	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs557236411	chr3:118154892-118154893	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575233153	chr3:118154914-118154915	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553070	chr3:118154937-118154938	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186342390	chr3:118154996-118154997	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190802664	chr3:118155058-118155059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540743378	chr3:118155105-118155106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565039408	chr3:118155139-118155140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182982155	chr3:118155167-118155168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186526553	chr3:118155231-118155232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562817384	chr3:118155235-118155236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566574	chr3:118155276-118155277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547908467	chr3:118155280-118155281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190920679	chr3:118155290-118155291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575549693	chr3:118155310-118155311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1447592	chr3:118155333-118155334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545130482	chr3:118155335-118155336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571461725	chr3:118155339-118155340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532615920	chr3:118155361-118155362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182631241	chr3:118155408-118155409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569486576	chr3:118155409-118155410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536627279	chr3:118155411-118155412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148885133	chr3:118155440-118155441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72969533	chr3:118155456-118155457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187710635	chr3:118155496-118155497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192710856	chr3:118155513-118155514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115698515	chr3:118155552-118155553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572160575	chr3:118155575-118155576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375141698	chr3:118155592-118155593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183444262	chr3:118155651-118155652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559095401	chr3:118155657-118155658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577108126	chr3:118155696-118155697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143485189	chr3:118155709-118155710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541190757	chr3:118155717-118155718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556481540	chr3:118155809-118155810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186967217	chr3:118155843-118155844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192228259	chr3:118155849-118155850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184249625	chr3:118155879-118155880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527289910	chr3:118155912-118155913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78941473	chr3:118155915-118155916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576749294	chr3:118155945-118155946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560894954	chr3:118156006-118156007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140200068	chr3:118156018-118156019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76972243	chr3:118156019-118156020	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118154200-118154600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:118154600-118155000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:118155000-118156400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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