Variant report

Variant	esv3692794
Chromosome Location	chr3:144283642-144291254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184068919	chr3:144287800-144287801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6796913	chr3:144287811-144287812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566474913	chr3:144287823-144287824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148287889	chr3:144288044-144288045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78743597	chr3:144288047-144288048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543058393	chr3:144288065-144288066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535146997	chr3:144288072-144288073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372116233	chr3:144288105-144288106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547377852	chr3:144288124-144288125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141475266	chr3:144288140-144288141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534117867	chr3:144288141-144288142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112114243	chr3:144288166-144288167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187742431	chr3:144288226-144288227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552688648	chr3:144288242-144288243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs80324727	chr3:144288252-144288253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192259913	chr3:144288280-144288281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9817588	chr3:144288302-144288303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146323563	chr3:144288394-144288395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538196150	chr3:144288411-144288412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76145060	chr3:144288463-144288464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572587645	chr3:144288464-144288465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546018645	chr3:144288500-144288501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9856190	chr3:144288547-144288548	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575769730	chr3:144288573-144288574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543121863	chr3:144288591-144288592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143001481	chr3:144288596-144288597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528902788	chr3:144288613-144288614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375385905	chr3:144288614-144288615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146122803	chr3:144288658-144288659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139992622	chr3:144288666-144288667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554370632	chr3:144288667-144288668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577949716	chr3:144288700-144288701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551642831	chr3:144288703-144288704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149420279	chr3:144288709-144288710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531793083	chr3:144288825-144288826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184600195	chr3:144288878-144288879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190379530	chr3:144289140-144289141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535518038	chr3:144289143-144289144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554427642	chr3:144289151-144289152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566294201	chr3:144289159-144289160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539633497	chr3:144289163-144289164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7612242	chr3:144289187-144289188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34117049	chr3:144289208-144289209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6440260	chr3:144289214-144289215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536719106	chr3:144289216-144289217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182061355	chr3:144289223-144289224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573566175	chr3:144289237-144289238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200446373	chr3:144289244-144289245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11357138	chr3:144289245-144289246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116702430	chr3:144289279-144289280	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144287800-144289400	Enhancers	Fetal Lung	lung
2	chr3:144288800-144289600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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