Variant report

Variant	esv11457
Chromosome Location	chr5:164722302-164725972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541268352	chr5:164722361-164722362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77922548	chr5:164722369-164722370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565570530	chr5:164722382-164722383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532905405	chr5:164722383-164722384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs36049504	chr5:164722388-164722389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547951363	chr5:164722443-164722444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559733548	chr5:164722488-164722489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114061659	chr5:164722528-164722529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111569907	chr5:164722529-164722530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550943503	chr5:164722542-164722543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530413896	chr5:164722547-164722548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551800819	chr5:164722548-164722549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570389956	chr5:164722598-164722599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534635045	chr5:164722632-164722633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577208720	chr5:164722640-164722641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553247418	chr5:164722648-164722649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568134307	chr5:164722682-164722683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35261228	chr5:164722704-164722705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190722769	chr5:164722715-164722716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554726503	chr5:164722716-164722717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181963590	chr5:164722773-164722774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140541877	chr5:164722825-164722826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183826766	chr5:164722868-164722869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577599006	chr5:164722918-164722919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541331663	chr5:164722951-164722952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530709534	chr5:164722952-164722953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530190646	chr5:164722959-164722960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75924630	chr5:164722980-164722981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74826779	chr5:164722981-164722982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111564373	chr5:164722999-164723000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112451495	chr5:164723000-164723001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548827307	chr5:164723010-164723011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188105557	chr5:164723027-164723028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12520661	chr5:164723066-164723067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549758524	chr5:164723098-164723099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551739260	chr5:164723148-164723149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181431750	chr5:164723176-164723177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528111078	chr5:164723214-164723215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546530467	chr5:164723258-164723259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12523003	chr5:164723285-164723286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535283358	chr5:164723333-164723334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573696678	chr5:164723347-164723348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557168410	chr5:164723351-164723352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542419137	chr5:164723357-164723358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552909118	chr5:164723374-164723375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559502158	chr5:164723382-164723383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570145082	chr5:164723400-164723401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375428914	chr5:164723451-164723452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537578635	chr5:164723483-164723484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559112691	chr5:164723499-164723500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164718800-164724000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:164723200-164724800	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:164724000-164724200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:164724000-164724200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:164724200-164724600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:164724200-164725000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:164724200-164736000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:164725000-164725400	Enhancers	HUES64 Cell Line	embryonic stem cell

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