Variant report

Variant	esv16162
Chromosome Location	chr3:28810031-28817818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531666083	chr3:28810036-28810037	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536479529	chr3:28810091-28810092	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77578744	chr3:28810173-28810174	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182878833	chr3:28810248-28810249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187479925	chr3:28810249-28810250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548056307	chr3:28810272-28810273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557736970	chr3:28810387-28810388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148937504	chr3:28810430-28810431	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9831564	chr3:28810441-28810442	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs554488886	chr3:28810451-28810452	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574138580	chr3:28810480-28810481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7621942	chr3:28810497-28810498	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562544792	chr3:28810541-28810542	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7610366	chr3:28810588-28810589	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs193198422	chr3:28810592-28810593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564879314	chr3:28810617-28810618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185480174	chr3:28810626-28810627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116474590	chr3:28810630-28810631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190783927	chr3:28810650-28810651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529820012	chr3:28810662-28810663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545007310	chr3:28810670-28810671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549961112	chr3:28810765-28810766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192199070	chr3:28810801-28810802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537951299	chr3:28810817-28810818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539158992	chr3:28810892-28810893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568484700	chr3:28810949-28810950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80157241	chr3:28810962-28810963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75394076	chr3:28810972-28810973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534234184	chr3:28810992-28810993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73068829	chr3:28811013-28811014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574298336	chr3:28811028-28811029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9681807	chr3:28811072-28811073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577661388	chr3:28811080-28811081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556808059	chr3:28811091-28811092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576162568	chr3:28811103-28811104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570285797	chr3:28811138-28811139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545124427	chr3:28811148-28811149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565014889	chr3:28811190-28811191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527268805	chr3:28811217-28811218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75624119	chr3:28811238-28811239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560988385	chr3:28811266-28811267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188369031	chr3:28811273-28811274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549518132	chr3:28811307-28811308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181233587	chr3:28811309-28811310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs996646	chr3:28811329-28811330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551444505	chr3:28811338-28811339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571436440	chr3:28811375-28811376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560074795	chr3:28811389-28811390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533912935	chr3:28811437-28811438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547785452	chr3:28811550-28811551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16618734	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28798400-28812200	Weak transcription	Aorta	Aorta
2	chr3:28809400-28810200	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:28809600-28811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:28809800-28811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:28810000-28810200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:28810000-28810200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:28810200-28810400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:28810200-28810800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:28810400-28810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:28811800-28812200	Weak transcription	Pancreas	Pancrea
11	chr3:28812200-28813800	ZNF genes & repeats	Aorta	Aorta

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