Variant report

Variant	esv3371215
Chromosome Location	chr5:115464853-115466151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555530868	chr5:115464888-115464889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138345410	chr5:115464894-115464895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534635839	chr5:115464931-115464932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529803528	chr5:115464934-115464935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142936394	chr5:115464938-115464939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184668828	chr5:115464943-115464944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188171127	chr5:115464953-115464954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557131347	chr5:115464954-115464955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145134520	chr5:115464973-115464974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138583069	chr5:115464983-115464984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6881750	chr5:115464985-115464986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11750725	chr5:115465034-115465035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs372232534	chr5:115465046-115465047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542224458	chr5:115465052-115465053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9764338	chr5:115465054-115465055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6862485	chr5:115465073-115465074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6862620	chr5:115465079-115465080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577588452	chr5:115465085-115465086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6881633	chr5:115465093-115465094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554830713	chr5:115465103-115465104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575903857	chr5:115465105-115465106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146269974	chr5:115465139-115465140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11297635	chr5:115465140-115465141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545758012	chr5:115465151-115465152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369135613	chr5:115465156-115465157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6881528	chr5:115465157-115465158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58157577	chr5:115465164-115465165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375817646	chr5:115465175-115465176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11297634	chr5:115465176-115465177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544633210	chr5:115465180-115465181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560406197	chr5:115465186-115465187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6881672	chr5:115465193-115465194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11297633	chr5:115465212-115465213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186408258	chr5:115465214-115465215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61052083	chr5:115465216-115465217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181205047	chr5:115465222-115465223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58285080	chr5:115465224-115465225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6881689	chr5:115465229-115465230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187167450	chr5:115465231-115465232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6881833	chr5:115465238-115465239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60099243	chr5:115465250-115465251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190608963	chr5:115465252-115465253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183412336	chr5:115465258-115465259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6881704	chr5:115465265-115465266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187682886	chr5:115465288-115465289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189924854	chr5:115465294-115465295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182136838	chr5:115465308-115465309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372132122	chr5:115465337-115465338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561045064	chr5:115465344-115465345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370018979	chr5:115465355-115465356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115449000-115466000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:115449400-115465600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:115450000-115473400	Weak transcription	Fetal Lung	lung
4	chr5:115450200-115469600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:115451000-115473200	Weak transcription	Ovary	ovary
6	chr5:115451000-115481200	Weak transcription	Left Ventricle	heart
7	chr5:115451200-115470800	Weak transcription	Primary B cells from cord blood	blood
8	chr5:115455600-115471400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:115460800-115471200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:115461400-115466000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:115461600-115474000	Weak transcription	Placenta	Placenta
12	chr5:115462600-115466000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
14	chr5:115465600-115465800	Enhancers	Osteobl	bone
15	chr5:115465600-115466000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:115465600-115466600	Enhancers	HSMM	muscle
17	chr5:115465600-115466600	Enhancers	HSMMtube	muscle
18	chr5:115465800-115466000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:115465800-115466000	Flanking Active TSS	Osteobl	bone
20	chr5:115465800-115466200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:115465800-115466800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:115465800-115467000	Enhancers	NH-A	brain
23	chr5:115465800-115467000	Enhancers	NHDF-Ad	bronchial
24	chr5:115466000-115466200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:115466000-115466200	Enhancers	Osteobl	bone
26	chr5:115466000-115466400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:115466000-115466400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:115466000-115466400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:115466000-115466400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:115466000-115466400	Enhancers	NHEK	skin
31	chr5:115466000-115466600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:115466000-115471600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:115466000-115473600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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