Variant report

Variant	esv2421659
Chromosome Location	chr3:80402423-80405826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:80398298..80401039-chr3:80402529..80404343,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576386194	chr3:80404210-80404211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140044108	chr3:80404218-80404219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6548689	chr3:80404220-80404221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143567290	chr3:80404246-80404247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546527869	chr3:80404268-80404269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146824254	chr3:80404307-80404308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545802817	chr3:80404316-80404317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6800923	chr3:80404318-80404319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs71326418	chr3:80404337-80404338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561161973	chr3:80404367-80404368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376727498	chr3:80404384-80404385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541931831	chr3:80404386-80404387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4856613	chr3:80404392-80404393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs550455804	chr3:80404397-80404398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570302338	chr3:80404408-80404409	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546530799	chr3:80404425-80404426	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538621131	chr3:80404430-80404431	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567862576	chr3:80404474-80404475	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73117719	chr3:80404477-80404478	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17017893	chr3:80404501-80404502	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534727199	chr3:80404512-80404513	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369886100	chr3:80404523-80404524	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371523812	chr3:80404548-80404549	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574693583	chr3:80404549-80404550	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536899636	chr3:80404573-80404574	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57035864	chr3:80404598-80404599	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577098252	chr3:80404609-80404610	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143774355	chr3:80404611-80404612	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560334973	chr3:80404639-80404640	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58502760	chr3:80404689-80404690	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184047752	chr3:80404694-80404695	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372531933	chr3:80404714-80404715	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561102379	chr3:80404790-80404791	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369220306	chr3:80404822-80404823	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151079477	chr3:80404857-80404858	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563989876	chr3:80404861-80404862	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189017713	chr3:80404892-80404893	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116668170	chr3:80404897-80404898	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565691968	chr3:80404904-80404905	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192997235	chr3:80404917-80404918	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28693406	chr3:80404933-80404934	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12637470	chr3:80404954-80404955	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs185098564	chr3:80404971-80404972	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568037938	chr3:80404976-80404977	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537241225	chr3:80405012-80405013	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529169304	chr3:80405023-80405024	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556906438	chr3:80405035-80405036	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12634980	chr3:80405043-80405044	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs187050142	chr3:80405066-80405067	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572113833	chr3:80405083-80405084	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80404200-80404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:80404200-80405200	Enhancers	NHEK	skin
3	chr3:80404400-80404800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:80404800-80405800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:80405200-80406600	Weak transcription	NHEK	skin
6	chr3:80405800-80406000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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