Variant report

Variant	esv2421334
Chromosome Location	chr18:28281252-28283411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:28282398..28285896-chr18:28288783..28293295,4	K562	blood:
2	chr18:28276205..28278628-chr18:28283100..28285003,2	K562	blood:
3	chr18:28275573..28278380-chr18:28282558..28284687,3	K562	blood:

Variant related genes	Relation type
ENSG00000266196	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189971120	chr18:28282405-28282406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182949737	chr18:28282421-28282422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs80114621	chr18:28282494-28282495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs552169592	chr18:28282521-28282522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2678802	chr18:28282553-28282554	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187464482	chr18:28282637-28282638	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550499254	chr18:28282689-28282690	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191765994	chr18:28282721-28282722	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536082342	chr18:28282729-28282730	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2678801	chr18:28282744-28282745	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140853210	chr18:28282749-28282750	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539395448	chr18:28282751-28282752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141516935	chr18:28282805-28282806	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576033610	chr18:28282843-28282844	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2678800	chr18:28282867-28282868	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184053186	chr18:28282877-28282878	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555666948	chr18:28282885-28282886	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs573734323	chr18:28282922-28282923	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540850378	chr18:28282942-28282943	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs77629137	chr18:28282965-28282966	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560180454	chr18:28283077-28283078	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386802066	chr18:28283094-28283095	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545747923	chr18:28283095-28283096	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2733131	chr18:28283096-28283097	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531773211	chr18:28283101-28283102	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550183933	chr18:28283112-28283113	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568754923	chr18:28283130-28283131	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529472259	chr18:28283165-28283166	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532252771	chr18:28283168-28283169	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs548016468	chr18:28283194-28283195	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139363576	chr18:28283234-28283235	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539536648	chr18:28283235-28283236	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115840026	chr18:28283264-28283265	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189049793	chr18:28283326-28283327	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192341055	chr18:28283335-28283336	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1970694	chr18:28283411-28283412	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28282600-28283400	Enhancers	HUES48 Cell Line	embryonic stem cell

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