Variant report

Variant	esv3329336
Chromosome Location	chr3:94453062-94456360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370498696	chr3:94453120-94453121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560326642	chr3:94453132-94453133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557132491	chr3:94453151-94453152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529507623	chr3:94453154-94453155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532359419	chr3:94453156-94453157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552370368	chr3:94453158-94453159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569375089	chr3:94453166-94453167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181090360	chr3:94453176-94453177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530217565	chr3:94453181-94453182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371673637	chr3:94453234-94453235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534535219	chr3:94453263-94453264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554153098	chr3:94453265-94453266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570776594	chr3:94453269-94453270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376283416	chr3:94453279-94453280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62271492	chr3:94453281-94453282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs151053086	chr3:94453288-94453289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386663440	chr3:94453290-94453291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575006573	chr3:94453298-94453299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11706923	chr3:94453299-94453300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148937484	chr3:94453339-94453340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11706958	chr3:94453355-94453356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540557385	chr3:94453450-94453451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560206856	chr3:94453460-94453461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16849463	chr3:94453486-94453487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546028115	chr3:94453535-94453536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562662901	chr3:94453567-94453568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181561998	chr3:94453596-94453597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548371770	chr3:94453597-94453598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187156943	chr3:94453616-94453617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527701308	chr3:94453626-94453627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72319476	chr3:94453630-94453631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530772521	chr3:94453637-94453638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568044841	chr3:94453655-94453656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372301700	chr3:94453672-94453673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547742799	chr3:94453674-94453675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570813676	chr3:94453681-94453682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16849465	chr3:94453690-94453691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556381863	chr3:94453704-94453705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569914319	chr3:94453713-94453714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537976640	chr3:94453816-94453817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386663441	chr3:94453830-94453831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567187307	chr3:94453834-94453835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370949736	chr3:94453835-94453836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536175876	chr3:94453928-94453929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147033376	chr3:94453935-94453936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140971055	chr3:94453940-94453941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577249026	chr3:94454022-94454023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190343727	chr3:94454054-94454055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576052303	chr3:94454058-94454059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562699869	chr3:94454069-94454070	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:94452800-94454000	Weak transcription	Hela-S3	cervix
2	chr3:94454000-94454600	Enhancers	Hela-S3	cervix
3	chr3:94454200-94454600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:94454600-94455600	Weak transcription	Hela-S3	cervix
5	chr3:94455800-94456000	Enhancers	Hela-S3	cervix

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