Variant report

Variant	esv3325918
Chromosome Location	chr5:101385578-101388101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532005644	chr5:101385636-101385637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2045841	chr5:101385698-101385699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3039993	chr5:101385708-101385709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562270901	chr5:101385747-101385748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148553824	chr5:101385787-101385788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371717930	chr5:101385793-101385794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547632902	chr5:101385822-101385823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565819600	chr5:101385829-101385830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533278563	chr5:101385841-101385842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12054761	chr5:101385881-101385882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs569730082	chr5:101385901-101385902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199608971	chr5:101385902-101385903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193203288	chr5:101385910-101385911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151106869	chr5:101385956-101385957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184145013	chr5:101386017-101386018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534506138	chr5:101386041-101386042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11242318	chr5:101386075-101386076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140034968	chr5:101386201-101386202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374061493	chr5:101386221-101386222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188529314	chr5:101386251-101386252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368077126	chr5:101386277-101386278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77535087	chr5:101386356-101386357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28537404	chr5:101386358-101386359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28402848	chr5:101386360-101386361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372481418	chr5:101386366-101386367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374639587	chr5:101386372-101386373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189582656	chr5:101386374-101386375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368611412	chr5:101386382-101386383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28522468	chr5:101386384-101386385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182001076	chr5:101386386-101386387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72129129	chr5:101386395-101386396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369238200	chr5:101386403-101386404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28688699	chr5:101386404-101386405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372748290	chr5:101386430-101386431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28716905	chr5:101386433-101386434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10045903	chr5:101386436-101386437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371519946	chr5:101386456-101386457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111531808	chr5:101386457-101386458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376988641	chr5:101386459-101386460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10606966	chr5:101386476-101386477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11345981	chr5:101386487-101386488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376499206	chr5:101386493-101386494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67122063	chr5:101386503-101386504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71593286	chr5:101386512-101386513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375798817	chr5:101386515-101386516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370949509	chr5:101386523-101386524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71586324	chr5:101386545-101386546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374331050	chr5:101386553-101386554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187659724	chr5:101386575-101386576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376128912	chr5:101386583-101386584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101384400-101386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:101384400-101386200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:101384600-101386200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:101384800-101385600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:101384800-101386000	Enhancers	Fetal Intestine Large	intestine
6	chr5:101384800-101386000	Enhancers	Fetal Intestine Small	intestine
7	chr5:101385200-101386200	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:101386200-101387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:101387400-101387800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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