Variant report

Variant	esv3383479
Chromosome Location	chr5:115129353-115131951
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	chr5:115130205..115131867-chr5:115132318..115134731,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186059189	chr5:115130221-115130222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192125829	chr5:115130227-115130228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533953855	chr5:115130244-115130245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74927792	chr5:115130283-115130284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148056231	chr5:115130287-115130288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182295155	chr5:115130290-115130291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140864771	chr5:115130311-115130312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77214203	chr5:115130328-115130329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79664962	chr5:115130349-115130350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565237387	chr5:115130351-115130352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138639401	chr5:115130366-115130367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141791748	chr5:115130371-115130372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561548915	chr5:115130394-115130395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145053541	chr5:115130404-115130405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138892663	chr5:115130405-115130406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149346844	chr5:115130411-115130412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201992478	chr5:115130468-115130469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376861089	chr5:115130469-115130470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112999753	chr5:115130470-115130471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186090078	chr5:115130486-115130487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527369904	chr5:115130501-115130502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144661382	chr5:115130584-115130585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148514407	chr5:115130619-115130620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199564335	chr5:115130803-115130804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200616523	chr5:115130804-115130805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201188878	chr5:115130805-115130806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200335178	chr5:115130806-115130807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35316891	chr5:115130829-115130830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548747012	chr5:115130840-115130841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536304916	chr5:115130847-115130848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541186038	chr5:115130884-115130885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567253750	chr5:115130891-115130892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs258736	chr5:115130906-115130907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs258737	chr5:115130926-115130927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190892560	chr5:115130997-115130998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571481256	chr5:115131007-115131008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538806913	chr5:115131027-115131028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141973143	chr5:115131039-115131040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541347984	chr5:115131049-115131050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150694564	chr5:115131059-115131060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530325970	chr5:115131099-115131100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573405467	chr5:115131106-115131107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs249490	chr5:115131150-115131151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs249491	chr5:115131158-115131159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140909622	chr5:115131176-115131177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573929824	chr5:115131192-115131193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113947378	chr5:115131219-115131220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564344845	chr5:115131240-115131241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80329030	chr5:115131241-115131242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144869686	chr5:115131283-115131284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115130200-115130400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:115130200-115130400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:115130200-115130400	Enhancers	HepG2	liver
4	chr5:115130400-115131200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:115130400-115131400	Weak transcription	HepG2	liver
6	chr5:115130400-115138400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:115131200-115131400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:115131400-115132600	Enhancers	Liver	Liver
9	chr5:115131400-115135400	Enhancers	HepG2	liver
10	chr5:115131400-115137800	Weak transcription	Fetal Brain Female	brain
11	chr5:115131400-115149200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:115131600-115132200	Enhancers	Placenta	Placenta
13	chr5:115131600-115134600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:115131800-115135200	Enhancers	Adipose Nuclei	Adipose
15	chr5:115131800-115137800	Weak transcription	Aorta	Aorta

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