Variant report

Variant	esv3358685
Chromosome Location	chr5:120093441-120093899
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	chr5:120072445..120075135-chr5:120093078..120094683,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574344738	chr5:120093441-120093442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566201578	chr5:120093442-120093443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549192832	chr5:120093446-120093447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191904043	chr5:120093478-120093479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531695525	chr5:120093506-120093507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149826868	chr5:120093508-120093509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535088362	chr5:120093540-120093541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537990799	chr5:120093547-120093548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549889340	chr5:120093556-120093557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561773712	chr5:120093590-120093591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141575294	chr5:120093606-120093607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540177213	chr5:120093612-120093613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1449164	chr5:120093622-120093623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377421093	chr5:120093649-120093650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539650999	chr5:120093659-120093660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552024568	chr5:120093699-120093700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73253733	chr5:120093703-120093704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs56714089	chr5:120093726-120093727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs67515659	chr5:120093727-120093728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397697343	chr5:120093730-120093731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184678963	chr5:120093791-120093792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555865515	chr5:120093800-120093801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574532082	chr5:120093815-120093816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370460402	chr5:120093821-120093822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535501582	chr5:120093837-120093838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553907679	chr5:120093845-120093846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572240415	chr5:120093846-120093847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61358955	chr5:120093858-120093859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120090200-120099000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:120091600-120095800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:120092000-120099000	Weak transcription	Aorta	Aorta
4	chr5:120092400-120096400	Weak transcription	H1 Cell Line	embryonic stem cell

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