Variant report

Variant	esv3353344
Chromosome Location	chr5:99906503-99908451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150934229	chr5:99906513-99906514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386690495	chr5:99906522-99906523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75325979	chr5:99906537-99906538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541747084	chr5:99906571-99906572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553795376	chr5:99906604-99906605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532339379	chr5:99906614-99906615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551902897	chr5:99906617-99906618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570204813	chr5:99906666-99906667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537427188	chr5:99906718-99906719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184217365	chr5:99906731-99906732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567671571	chr5:99906749-99906750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140892551	chr5:99906756-99906757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534971468	chr5:99906762-99906763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376932024	chr5:99906768-99906769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572120680	chr5:99906820-99906821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200125091	chr5:99906848-99906849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10642518	chr5:99906856-99906857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35428231	chr5:99906857-99906858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60236371	chr5:99906867-99906868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs379967	chr5:99906868-99906869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186749650	chr5:99906897-99906898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1993517	chr5:99906966-99906967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111798858	chr5:99906991-99906992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144718599	chr5:99907069-99907070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374231627	chr5:99907070-99907071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560515342	chr5:99907090-99907091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572806576	chr5:99907102-99907103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182929192	chr5:99907136-99907137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372609035	chr5:99907143-99907144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138942753	chr5:99907148-99907149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13360835	chr5:99907150-99907151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17157333	chr5:99907173-99907174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187242632	chr5:99907182-99907183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549513074	chr5:99907200-99907201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191325414	chr5:99907209-99907210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535018539	chr5:99907216-99907217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529767869	chr5:99907376-99907377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368615508	chr5:99907377-99907378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182324979	chr5:99907395-99907396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13356609	chr5:99907397-99907398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571945851	chr5:99907399-99907400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538828705	chr5:99907458-99907459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557107497	chr5:99907481-99907482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17157335	chr5:99907532-99907533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535905562	chr5:99907534-99907535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375710224	chr5:99907535-99907536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565114593	chr5:99907581-99907582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544805137	chr5:99907632-99907633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145812665	chr5:99907673-99907674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370112997	chr5:99907747-99907748	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99872400-99931400	Weak transcription	Aorta	Aorta
2	chr5:99872600-99922800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:99872800-99916200	Weak transcription	Ovary	ovary
4	chr5:99873400-99916200	Weak transcription	Fetal Stomach	stomach
5	chr5:99873400-99930600	Weak transcription	NH-A	brain
6	chr5:99878400-99930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:99884000-99910400	Weak transcription	HUVEC	blood vessel
8	chr5:99886800-99930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:99887200-99912000	Weak transcription	Psoas Muscle	Psoas
10	chr5:99887200-99916200	Weak transcription	Lung	lung
11	chr5:99887200-99924600	Weak transcription	Fetal Thymus	thymus
12	chr5:99887600-99907200	Weak transcription	Pancreas	Pancrea
13	chr5:99893800-99910400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:99894400-99907400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:99895400-99919800	Weak transcription	HSMMtube	muscle
16	chr5:99895800-99911600	Weak transcription	NHDF-Ad	bronchial
17	chr5:99895800-99921000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
19	chr5:99896200-99916200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:99896200-99927600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:99897000-99928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:99897200-99910200	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:99897200-99923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:99897800-99910400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:99898000-99912000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:99898000-99930800	Weak transcription	Dnd41	blood
29	chr5:99899000-99911200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr5:99899000-99930000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:99899600-99923200	Weak transcription	Fetal Brain Female	brain
32	chr5:99899800-99915800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:99899800-99916400	Weak transcription	GM12878-XiMat	blood
34	chr5:99899800-99919800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:99899800-99931400	Weak transcription	Adipose Nuclei	Adipose
36	chr5:99900000-99911800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:99900000-99915800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:99900000-99922600	Weak transcription	Liver	Liver
39	chr5:99900000-99927600	Weak transcription	Left Ventricle	heart
40	chr5:99900200-99916200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:99900200-99919600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:99900200-99922400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr5:99900200-99922600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:99901400-99919800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:99901400-99925800	Weak transcription	Right Ventricle	heart
46	chr5:99901600-99916000	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:99902200-99916000	Weak transcription	Primary T cells from cord blood	blood
48	chr5:99902800-99910200	Weak transcription	HSMM	muscle
49	chr5:99902800-99916000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:99902800-99922000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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