Variant report

Variant	esv16026
Chromosome Location	chr5:116682395-116693314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:116680619..116683137-chr5:116684782..116686469,2	MCF-7	breast:
2	chr5:116680619..116683137-chr5:116684782..116686469,2	MCF-7	breast:
3	chr5:116693270..116694072-chr5:116822684..116823457,2	MCF-7	breast:
4	chr5:116693270..116694072-chr5:116822684..116823457,3	MCF-7	breast:
5	chr5:116680122..116681946-chr5:116688874..116691608,2	MCF-7	breast:

Extended variants
information (count: 507 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187427460	chr5:116682416-116682417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193130040	chr5:116682417-116682418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147109526	chr5:116682436-116682437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185636659	chr5:116682467-116682468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572441153	chr5:116682470-116682471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4464733	chr5:116682487-116682488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs4464734	chr5:116682501-116682502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189347397	chr5:116682526-116682527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543541283	chr5:116682621-116682622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563849308	chr5:116682639-116682640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532526535	chr5:116682654-116682655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552635971	chr5:116682666-116682667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551899712	chr5:116682678-116682679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4590209	chr5:116682686-116682687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138502830	chr5:116682697-116682698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11334373	chr5:116682704-116682705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567308871	chr5:116682759-116682760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536489448	chr5:116682807-116682808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369367361	chr5:116682868-116682869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566529842	chr5:116682882-116682883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549608582	chr5:116682928-116682929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200107601	chr5:116682944-116682945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374523753	chr5:116682990-116682991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569763191	chr5:116682995-116682996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76474671	chr5:116683039-116683040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538232883	chr5:116683069-116683070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534028792	chr5:116683071-116683072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558099181	chr5:116683110-116683111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192703444	chr5:116683172-116683173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143987401	chr5:116683212-116683213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555281161	chr5:116683215-116683216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555290537	chr5:116683227-116683228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78403310	chr5:116683238-116683239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544019994	chr5:116683252-116683253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4458619	chr5:116683266-116683267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4629633	chr5:116683285-116683286	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs546341663	chr5:116683294-116683295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568491451	chr5:116683320-116683321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577258033	chr5:116683380-116683381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376301538	chr5:116683385-116683386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4469226	chr5:116683396-116683397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs143952494	chr5:116683415-116683416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547365889	chr5:116683416-116683417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79086062	chr5:116683433-116683434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529830083	chr5:116683454-116683455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542335475	chr5:116683507-116683508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569532806	chr5:116683530-116683531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183455667	chr5:116683545-116683546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533918488	chr5:116683546-116683547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7447809	chr5:116683560-116683561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116680200-116683000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:116680200-116683000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:116683000-116683400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:116683000-116683600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:116683000-116683600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:116683200-116684000	Enhancers	Aorta	Aorta
7	chr5:116683600-116689000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:116687000-116687200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:116687200-116697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:116688600-116691200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:116689000-116689400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:116689000-116689600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr5:116689400-116689800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:116689400-116693400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:116689600-116690400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:116689800-116690200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:116690200-116691200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:116690400-116690600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:116690400-116690800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:116690400-116691000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:116690400-116691200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:116690400-116691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:116690600-116691000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:116690600-116691200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:116690600-116691400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr5:116691400-116691600	Enhancers	HUES64 Cell Line	embryonic stem cell

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