Variant report

Variant	esv3433284
Chromosome Location	chr5:91779396-91784194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:91778495..91780939-chr5:91782236..91784018,2	K562	blood:
2	chr5:91779439..91781347-chr5:91782518..91784817,2	K562	blood:
3	chr5:91779439..91781347-chr5:91782518..91784817,2	K562	blood:
4	chr5:91778495..91780939-chr5:91782236..91784018,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555891802	chr5:91781004-91781005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536461003	chr5:91781037-91781038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571279962	chr5:91781079-91781080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527697452	chr5:91781104-91781105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180979887	chr5:91781144-91781145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547448190	chr5:91781173-91781174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567660438	chr5:91781192-91781193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561790899	chr5:91781195-91781196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530272395	chr5:91781205-91781206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556463472	chr5:91781241-91781242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570256764	chr5:91781285-91781286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377049820	chr5:91781336-91781337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540482059	chr5:91781426-91781427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560781823	chr5:91781467-91781468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532670967	chr5:91781480-91781481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186242690	chr5:91781498-91781499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13354703	chr5:91781615-91781616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190445892	chr5:91781616-91781617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138384838	chr5:91781621-91781622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554595287	chr5:91781634-91781635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574438890	chr5:91781653-91781654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543539019	chr5:91781727-91781728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557754259	chr5:91781745-91781746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563318192	chr5:91781758-91781759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73134939	chr5:91781780-91781781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91781000-91781800	Enhancers	Fetal Brain Male	brain

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