Variant report

Variant	esv3351327
Chromosome Location	chr5:100422003-100424201
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	chr5:100420424..100422680-chr5:100454065..100456337,2	K562	blood:

Extended variants
information (count: 229 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371221824	chr5:100422010-100422011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147825280	chr5:100422040-100422041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139728204	chr5:100422050-100422051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149966039	chr5:100422055-100422056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561135041	chr5:100422066-100422067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374802144	chr5:100422075-100422076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144881313	chr5:100422080-100422081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188630015	chr5:100422107-100422108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561871289	chr5:100422114-100422115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191787309	chr5:100422171-100422172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531928260	chr5:100422180-100422181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558071454	chr5:100422210-100422211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570191375	chr5:100422242-100422243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536788062	chr5:100422253-100422254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555417941	chr5:100422277-100422278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573996366	chr5:100422290-100422291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541042992	chr5:100422295-100422296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs5869935	chr5:100422309-100422310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397882805	chr5:100422310-100422311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183569652	chr5:100422384-100422385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149045141	chr5:100422430-100422431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114985213	chr5:100422451-100422452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113946199	chr5:100422482-100422483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539028786	chr5:100422485-100422486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368487135	chr5:100422491-100422492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561778706	chr5:100422583-100422584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551476602	chr5:100422584-100422585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201766558	chr5:100422593-100422594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563375511	chr5:100422603-100422604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116645871	chr5:100422606-100422607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374293950	chr5:100422652-100422653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7707683	chr5:100422653-100422654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376604828	chr5:100422658-100422659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs70987839	chr5:100422662-100422663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543582407	chr5:100422670-100422671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562198533	chr5:100422673-100422674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529313781	chr5:100422674-100422675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547409689	chr5:100422678-100422679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200882521	chr5:100422679-100422680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376761120	chr5:100422680-100422681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146619236	chr5:100422681-100422682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201735588	chr5:100422683-100422684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370676656	chr5:100422686-100422687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565692917	chr5:100422693-100422694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112409705	chr5:100422705-100422706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533457488	chr5:100422707-100422708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7708994	chr5:100422708-100422709	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs374352506	chr5:100422716-100422717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377015820	chr5:100422729-100422730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7709009	chr5:100422738-100422739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Prostate cancer	19363497	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100417000-100424000	Weak transcription	A549	lung
2	chr5:100424000-100426800	Enhancers	A549	lung

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