Variant report

Variant	esv3340446
Chromosome Location	chr3:99444062-99448260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572675743	chr3:99444083-99444084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181979753	chr3:99444088-99444089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11715718	chr3:99444093-99444094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373106311	chr3:99444116-99444117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34906671	chr3:99444127-99444128	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185034481	chr3:99444143-99444144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543325873	chr3:99444152-99444153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190276533	chr3:99444187-99444188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181097842	chr3:99444197-99444198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577870574	chr3:99444220-99444221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569753870	chr3:99444237-99444238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9844595	chr3:99444260-99444261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190270785	chr3:99444267-99444268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79434540	chr3:99444276-99444277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548867673	chr3:99444339-99444340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180787147	chr3:99444387-99444388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531458124	chr3:99444402-99444403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185185685	chr3:99444414-99444415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571661621	chr3:99444418-99444419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13099452	chr3:99444421-99444422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190785350	chr3:99444486-99444487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529792595	chr3:99444491-99444492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140074674	chr3:99444530-99444531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142294073	chr3:99444539-99444540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375517167	chr3:99444565-99444566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554837238	chr3:99444606-99444607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576583322	chr3:99444620-99444621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537333430	chr3:99444624-99444625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558868466	chr3:99444631-99444632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577195834	chr3:99444644-99444645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369890141	chr3:99444657-99444658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184118732	chr3:99444660-99444661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151243765	chr3:99444667-99444668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371843396	chr3:99444688-99444689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559732142	chr3:99444694-99444695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571780146	chr3:99444703-99444704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542709514	chr3:99444704-99444705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560876870	chr3:99444706-99444707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531576383	chr3:99444707-99444708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549805253	chr3:99444708-99444709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565207663	chr3:99444711-99444712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532535001	chr3:99444717-99444718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375552234	chr3:99444729-99444730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547781556	chr3:99444749-99444750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566103667	chr3:99444769-99444770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369332590	chr3:99444779-99444780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536304627	chr3:99444792-99444793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139214643	chr3:99444832-99444833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188225464	chr3:99444851-99444852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537677628	chr3:99444873-99444874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99433600-99449200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:99440200-99458000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99440400-99444600	Weak transcription	NHLF	lung
4	chr3:99440400-99448600	Weak transcription	HSMM	muscle
5	chr3:99440400-99450200	Weak transcription	HSMMtube	muscle
6	chr3:99440400-99458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:99440400-99458200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:99440400-99471000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:99440600-99449200	Weak transcription	NHDF-Ad	bronchial
10	chr3:99440800-99449400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:99441200-99448600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:99441200-99458000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:99441400-99466800	Weak transcription	NH-A	brain
14	chr3:99442200-99448800	Weak transcription	HUVEC	blood vessel
15	chr3:99442600-99444200	Strong transcription	Osteobl	bone
16	chr3:99443400-99471400	Weak transcription	Aorta	Aorta
17	chr3:99443800-99449800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr3:99444200-99448000	Weak transcription	Osteobl	bone
19	chr3:99448000-99451000	Strong transcription	Osteobl	bone

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