Variant report

Variant	esv3412717
Chromosome Location	chr5:61292945-61294943
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	chr5:61288113..61290952-chr5:61291364..61292947,2	K562	blood:
2	chr5:61290242..61292667-chr5:61292946..61295835,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373513230	chr5:61293049-61293050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550703086	chr5:61293053-61293054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138131284	chr5:61293066-61293067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539463071	chr5:61293081-61293082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577205961	chr5:61293170-61293171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553668685	chr5:61293193-61293194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142639781	chr5:61293202-61293203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538512465	chr5:61293203-61293204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191212271	chr5:61293210-61293211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556632897	chr5:61293246-61293247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182374869	chr5:61293282-61293283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34897748	chr5:61293287-61293288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114262754	chr5:61293369-61293370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369770487	chr5:61293407-61293408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577579279	chr5:61293418-61293419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144056896	chr5:61293557-61293558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560311322	chr5:61293596-61293597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528383957	chr5:61293641-61293642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548228266	chr5:61293642-61293643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561878909	chr5:61293643-61293644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530727951	chr5:61293653-61293654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574968680	chr5:61293908-61293909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564225613	chr5:61293929-61293930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541977687	chr5:61293937-61293938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79077833	chr5:61293943-61293944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201741864	chr5:61293951-61293952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368308738	chr5:61293952-61293953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570579310	chr5:61293962-61293963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148863258	chr5:61293976-61293977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13175940	chr5:61293994-61293995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77702068	chr5:61294067-61294068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186813652	chr5:61294108-61294109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189674638	chr5:61294122-61294123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542488607	chr5:61294131-61294132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370091068	chr5:61294228-61294229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555796709	chr5:61294236-61294237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575748403	chr5:61294244-61294245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538062209	chr5:61294265-61294266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557960592	chr5:61294303-61294304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374549914	chr5:61294321-61294322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13180268	chr5:61294425-61294426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540374206	chr5:61294454-61294455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554127250	chr5:61294471-61294472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561125342	chr5:61294483-61294484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376230245	chr5:61294495-61294496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542060030	chr5:61294568-61294569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141248364	chr5:61294599-61294600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11749228	chr5:61294619-61294620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150756992	chr5:61294623-61294624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114058354	chr5:61294624-61294625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61286600-61293400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:61288000-61294800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:61291200-61293200	Enhancers	Fetal Intestine Large	intestine
4	chr5:61291800-61293400	Enhancers	Fetal Intestine Small	intestine
5	chr5:61292600-61295400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:61293200-61294200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:61293400-61294600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:61293400-61296200	Weak transcription	Fetal Intestine Small	intestine
9	chr5:61294200-61294800	Enhancers	Fetal Intestine Large	intestine
10	chr5:61294600-61298000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:61294800-61296200	Weak transcription	Fetal Intestine Large	intestine
12	chr5:61294800-61299000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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