Variant report

Variant	esv3520513
Chromosome Location	chr5:29675244-29712272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:29693881..29696199-chr5:29698670..29700812,2	K562	blood:
2	chr5:29367229..29368191-chr5:29697633..29698544,4	MCF-7	breast:
3	chr2:119203281..119203921-chr5:29680877..29681838,2	MCF-7	breast:
4	chr5:29690755..29693202-chr5:29696667..29699518,2	MCF-7	breast:
5	chr5:29367148..29368248-chr5:29697562..29698574,8	MCF-7	breast:
6	chr5:29694176..29695942-chr5:29696440..29698391,2	MCF-7	breast:
7	chr5:29694176..29695942-chr5:29696440..29698391,2	MCF-7	breast:
8	chr5:29693881..29696199-chr5:29698670..29700812,2	K562	blood:
9	chr5:29690755..29693202-chr5:29696667..29699518,2	MCF-7	breast:

No data

Extended variants
information (count: 159 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370988129	chr5:29697406-29697407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181256394	chr5:29697420-29697421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148964277	chr5:29697436-29697437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544992773	chr5:29697477-29697478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547497469	chr5:29697486-29697487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186236120	chr5:29697498-29697499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536255117	chr5:29697499-29697500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530313000	chr5:29697522-29697523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1456630	chr5:29697536-29697537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145680263	chr5:29697556-29697557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527356235	chr5:29697564-29697565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190609342	chr5:29697574-29697575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556427467	chr5:29697598-29697599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577846382	chr5:29697602-29697603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545171034	chr5:29697664-29697665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554254067	chr5:29697672-29697673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572407291	chr5:29697679-29697680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543008023	chr5:29697690-29697691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73756506	chr5:29697706-29697707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531727640	chr5:29697709-29697710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543774740	chr5:29697721-29697722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10461870	chr5:29697762-29697763	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
23	rs184153332	chr5:29697775-29697776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3114529	chr5:29697809-29697810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs569590195	chr5:29697825-29697826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186332007	chr5:29697913-29697914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542144736	chr5:29697916-29697917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569349375	chr5:29697925-29697926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536630134	chr5:29697939-29697940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190980022	chr5:29697949-29697950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571572328	chr5:29697961-29697962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538854719	chr5:29697985-29697986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10461871	chr5:29698057-29698058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572594058	chr5:29698072-29698073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542793943	chr5:29698078-29698079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10058863	chr5:29698079-29698080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532292008	chr5:29698124-29698125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576533491	chr5:29698146-29698147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115590511	chr5:29698155-29698156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183139465	chr5:29698163-29698164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532401857	chr5:29698170-29698171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541316331	chr5:29698177-29698178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146560957	chr5:29698206-29698207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75970955	chr5:29698216-29698217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551326076	chr5:29698279-29698280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1456626	chr5:29698317-29698318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569386575	chr5:29698329-29698330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3114528	chr5:29698347-29698348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73756507	chr5:29698352-29698353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs76096288	chr5:29698363-29698364	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29697400-29698400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:29705800-29706200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:29706000-29707200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:29706200-29706600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:29706600-29708000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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