Variant report

Variant	nsv518369
Chromosome Location	chr5:107459529-107469524
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	chr5:107460221..107462771-chr5:107469152..107471669,2	K562	blood:
2	chr5:107460221..107462771-chr5:107469152..107471669,2	K562	blood:

Extended variants
information (count: 370 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12652687	chr5:107459529-107459530	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186945635	chr5:107459534-107459535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149211721	chr5:107459535-107459536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578093605	chr5:107459570-107459571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143833282	chr5:107459613-107459614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564055131	chr5:107459621-107459622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529550334	chr5:107459637-107459638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558196354	chr5:107459688-107459689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542645735	chr5:107459754-107459755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559299748	chr5:107459768-107459769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192092625	chr5:107459789-107459790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551424354	chr5:107459797-107459798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs286807	chr5:107459798-107459799	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530682106	chr5:107459851-107459852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550494273	chr5:107459853-107459854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567587216	chr5:107459893-107459894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536531158	chr5:107459894-107459895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553029963	chr5:107459978-107459979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200725008	chr5:107459990-107459991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182309534	chr5:107459991-107459992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566442291	chr5:107460040-107460041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552880699	chr5:107460072-107460073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538749226	chr5:107460142-107460143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558577066	chr5:107460174-107460175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544921827	chr5:107460183-107460184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560285824	chr5:107460196-107460197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs286806	chr5:107460215-107460216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146845013	chr5:107460220-107460221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557255911	chr5:107460256-107460257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574022103	chr5:107460262-107460263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542882680	chr5:107460272-107460273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559334608	chr5:107460344-107460345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140637548	chr5:107460368-107460369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545099692	chr5:107460396-107460397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565419589	chr5:107460410-107460411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530894947	chr5:107460413-107460414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550782300	chr5:107460443-107460444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116417994	chr5:107460455-107460456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185413394	chr5:107460467-107460468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189932976	chr5:107460472-107460473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182145359	chr5:107460552-107460553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75617745	chr5:107460593-107460594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145667785	chr5:107460596-107460597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187199961	chr5:107460598-107460599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537522216	chr5:107460673-107460674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573167372	chr5:107460684-107460685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557553926	chr5:107460705-107460706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573859035	chr5:107460708-107460709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542921419	chr5:107460720-107460721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374294032	chr5:107460726-107460727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107437800-107463800	Weak transcription	Esophagus	oesophagus
3	chr5:107449000-107467200	Weak transcription	Aorta	Aorta
4	chr5:107457000-107459600	Weak transcription	Fetal Intestine Small	intestine
5	chr5:107457800-107460000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:107458400-107459800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:107458400-107459800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:107458400-107460200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:107458400-107460600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:107458600-107460600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:107459000-107459800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:107459200-107459800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:107459200-107460600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:107459600-107460000	Enhancers	Fetal Lung	lung
15	chr5:107459800-107460400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:107459800-107460800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:107459800-107461600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:107460200-107460600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:107460200-107461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:107460400-107461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:107460600-107461800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:107460800-107465000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:107461200-107461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:107461400-107462200	Enhancers	HepG2	liver
25	chr5:107461600-107461800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:107461600-107461800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:107461600-107462600	Enhancers	GM12878-XiMat	blood
28	chr5:107461800-107462000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:107461800-107462000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:107463800-107464000	Enhancers	Esophagus	oesophagus
31	chr5:107464000-107464400	Weak transcription	Esophagus	oesophagus
32	chr5:107465000-107465600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:107465600-107469200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:107468200-107468800	Weak transcription	Fetal Lung	lung
35	chr5:107468600-107475000	Weak transcription	Aorta	Aorta
36	chr5:107469200-107469400	Enhancers	Pancreatic Islets	Pancreatic Islet

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