Variant report

Variant	esv3376091
Chromosome Location	chr5:99922803-99924876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374159116	chr5:99922831-99922832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552481879	chr5:99922832-99922833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570680662	chr5:99922878-99922879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9327206	chr5:99922879-99922880	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369975875	chr5:99922882-99922883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534366498	chr5:99922890-99922891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187824173	chr5:99922900-99922901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556051517	chr5:99922997-99922998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73164296	chr5:99923012-99923013	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190396089	chr5:99923078-99923079	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141469962	chr5:99923130-99923131	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs572887624	chr5:99923134-99923135	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113747421	chr5:99923174-99923175	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111234532	chr5:99923175-99923176	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs150615125	chr5:99923178-99923179	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs10693316	chr5:99923179-99923180	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs33952473	chr5:99923180-99923181	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs201514926	chr5:99923227-99923228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544418375	chr5:99923262-99923263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540260186	chr5:99923284-99923285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75434637	chr5:99923291-99923292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554438531	chr5:99923305-99923306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147938879	chr5:99923331-99923332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570424993	chr5:99923333-99923334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57723895	chr5:99923350-99923351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541854968	chr5:99923351-99923352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370865712	chr5:99923354-99923355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577434479	chr5:99923360-99923361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376922756	chr5:99923378-99923379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544901833	chr5:99923404-99923405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563093680	chr5:99923409-99923410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58700212	chr5:99923429-99923430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs117619182	chr5:99923438-99923439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183701457	chr5:99923441-99923442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60324156	chr5:99923458-99923459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs527254249	chr5:99923478-99923479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80040110	chr5:99923510-99923511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570442175	chr5:99923551-99923552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531464724	chr5:99923552-99923553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373171616	chr5:99923569-99923570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550051897	chr5:99923657-99923658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568158329	chr5:99923721-99923722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535301289	chr5:99923760-99923761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187831177	chr5:99923887-99923888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374711705	chr5:99923915-99923916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566599631	chr5:99923928-99923929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534046343	chr5:99923975-99923976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556584428	chr5:99923983-99923984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192901325	chr5:99924051-99924052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560377700	chr5:99924057-99924058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99873400-99930600	Weak transcription	NH-A	brain
3	chr5:99878400-99930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:99886800-99930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:99887200-99924600	Weak transcription	Fetal Thymus	thymus
6	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
7	chr5:99896200-99927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:99897000-99928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:99897200-99923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:99898000-99930800	Weak transcription	Dnd41	blood
13	chr5:99899000-99930000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:99899600-99923200	Weak transcription	Fetal Brain Female	brain
15	chr5:99899800-99931400	Weak transcription	Adipose Nuclei	Adipose
16	chr5:99900000-99927600	Weak transcription	Left Ventricle	heart
17	chr5:99901400-99925800	Weak transcription	Right Ventricle	heart
18	chr5:99903600-99924600	Weak transcription	Fetal Lung	lung
19	chr5:99905800-99931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:99910600-99929600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:99910800-99926200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr5:99912200-99928600	Weak transcription	Psoas Muscle	Psoas
23	chr5:99912600-99930800	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:99914800-99931000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:99916600-99923800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:99916600-99924600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr5:99916600-99925000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:99916800-99931400	Weak transcription	Ovary	ovary
29	chr5:99917400-99923200	Weak transcription	Fetal Stomach	stomach
30	chr5:99917400-99924800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:99917400-99931000	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:99919200-99929800	Weak transcription	HUVEC	blood vessel
33	chr5:99919800-99924400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:99920000-99932800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:99920200-99924600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:99920200-99930000	Weak transcription	HSMMtube	muscle
37	chr5:99920200-99930000	Weak transcription	Osteobl	bone
38	chr5:99920200-99930800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:99920200-99933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:99920400-99923400	Weak transcription	Primary B cells from cord blood	blood
41	chr5:99920800-99923800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:99921000-99923200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:99921000-99925600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:99922000-99923200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:99922000-99924400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr5:99922600-99923000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr5:99922600-99923200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:99922600-99923200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:99922600-99923200	Strong transcription	Primary T cells from cord blood	blood
50	chr5:99922600-99923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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