Variant report

Variant	esv3332291
Chromosome Location	chr5:103625102-103642192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103633936..103636203-chr5:103642524..103644574,2	K562	blood:
2	chr5:103630146..103633049-chr5:103637946..103640879,3	K562	blood:
3	chr5:103614351..103617259-chr5:103627051..103629322,2	K562	blood:
4	chr5:103614287..103617162-chr5:103624383..103626582,2	K562	blood:
5	chr5:103630146..103633049-chr5:103637946..103640879,3	K562	blood:

Extended variants
information (count: 246 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs529944114	chr5:103625408-103625409	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201852406	chr5:103625411-103625412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs370581090	chr5:103625412-103625413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536073284	chr5:103625437-103625438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575534248	chr5:103625494-103625495	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116742236	chr5:103625579-103625580	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186157258	chr5:103625619-103625620	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561137828	chr5:103625642-103625643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35889528	chr5:103625654-103625655	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574504329	chr5:103625682-103625683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145778470	chr5:103625689-103625690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190576995	chr5:103625705-103625706	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182781898	chr5:103625707-103625708	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs548044059	chr5:103625726-103625727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532632656	chr5:103625752-103625753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187172124	chr5:103625767-103625768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561479751	chr5:103625807-103625808	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555958720	chr5:103625830-103625831	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141520587	chr5:103625842-103625843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2591442	chr5:103625859-103625860	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532078825	chr5:103625972-103625973	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs548553884	chr5:103625974-103625975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568649274	chr5:103626006-103626007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs10059552	chr5:103626075-103626076	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112646054	chr5:103626079-103626080	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs566263942	chr5:103626080-103626081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190948444	chr5:103626114-103626115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs147041460	chr5:103626134-103626135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182897019	chr5:103626152-103626153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147840566	chr5:103626166-103626167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7736455	chr5:103626197-103626198	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs572390550	chr5:103626199-103626200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs142543630	chr5:103626216-103626217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7736473	chr5:103626231-103626232	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs560376153	chr5:103626254-103626255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs577456606	chr5:103626262-103626263	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570896786	chr5:103626281-103626282	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546317354	chr5:103626330-103626331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562905810	chr5:103626331-103626332	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531567108	chr5:103626363-103626364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs141445726	chr5:103626385-103626386	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562272094	chr5:103626411-103626412	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112491651	chr5:103626424-103626425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs149670044	chr5:103626503-103626504	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35400644	chr5:103626509-103626510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs527970361	chr5:103626525-103626526	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547624679	chr5:103626526-103626527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143629020	chr5:103626535-103626536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74924178	chr5:103626537-103626538	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78491721	chr5:103626538-103626539	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103625400-103626600	Active TSS	K562	blood
2	chr5:103630600-103631400	Enhancers	Ovary	ovary
3	chr5:103631200-103631400	Enhancers	Colon Smooth Muscle	Colon
4	chr5:103631400-103632600	Weak transcription	Ovary	ovary
5	chr5:103632200-103632600	Enhancers	HSMM	muscle
6	chr5:103632200-103633400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:103632400-103632800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:103632400-103633400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:103632600-103632800	Enhancers	Ovary	ovary
10	chr5:103632600-103632800	Enhancers	HSMMtube	muscle
11	chr5:103632600-103633000	Enhancers	Osteobl	bone
12	chr5:103632800-103633200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:103636800-103637200	Enhancers	HepG2	liver
14	chr5:103636800-103638400	Enhancers	HUVEC	blood vessel
15	chr5:103637600-103638000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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