Variant report

Variant	esv3373847
Chromosome Location	chr5:99928703-99930826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186947998	chr5:99928719-99928720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145713884	chr5:99928720-99928721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193250431	chr5:99928726-99928727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75278672	chr5:99928777-99928778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533778555	chr5:99928819-99928820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558741295	chr5:99928848-99928849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184888	chr5:99928881-99928882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs533070136	chr5:99928921-99928922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539986334	chr5:99928960-99928961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185667995	chr5:99928965-99928966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56220772	chr5:99929003-99929004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73774452	chr5:99929011-99929012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73152923	chr5:99929065-99929066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542903209	chr5:99929066-99929067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551585354	chr5:99929081-99929082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13160131	chr5:99929085-99929086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190184099	chr5:99929194-99929195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565484403	chr5:99929195-99929196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532064416	chr5:99929228-99929229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115849878	chr5:99929324-99929325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192937100	chr5:99929345-99929346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1840984	chr5:99929353-99929354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs184788366	chr5:99929369-99929370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549250591	chr5:99929389-99929390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548484777	chr5:99929395-99929396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568651940	chr5:99929415-99929416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200264021	chr5:99929426-99929427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55647425	chr5:99929429-99929430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534112566	chr5:99929451-99929452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145739846	chr5:99929455-99929456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374184132	chr5:99929481-99929482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375746765	chr5:99929493-99929494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374244549	chr5:99929496-99929497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370969798	chr5:99929499-99929500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374611017	chr5:99929506-99929507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56236625	chr5:99929507-99929508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56265954	chr5:99929508-99929509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368927156	chr5:99929514-99929515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368319051	chr5:99929517-99929518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538751748	chr5:99929518-99929519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371026941	chr5:99929522-99929523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370883976	chr5:99929530-99929531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180711134	chr5:99929534-99929535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374411081	chr5:99929540-99929541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374293171	chr5:99929542-99929543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367888850	chr5:99929543-99929544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56046813	chr5:99929546-99929547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367590832	chr5:99929548-99929549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557070939	chr5:99929549-99929550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76125588	chr5:99929555-99929556	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:59 , 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	chr5:99895800-99931000	Weak transcription	Fetal Intestine Large	intestine
6	chr5:99896600-99933800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:99896800-99931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:99897000-99928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:99898000-99930800	Weak transcription	Dnd41	blood
10	chr5:99899000-99930000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:99899800-99931400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:99905800-99931000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:99910600-99929600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:99912600-99930800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:99914800-99931000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:99916800-99931400	Weak transcription	Ovary	ovary
17	chr5:99917400-99931000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:99919200-99929800	Weak transcription	HUVEC	blood vessel
19	chr5:99920000-99932800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:99920200-99930000	Weak transcription	HSMMtube	muscle
21	chr5:99920200-99930000	Weak transcription	Osteobl	bone
22	chr5:99920200-99930800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:99920200-99933600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:99923200-99930200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:99923200-99930200	Weak transcription	HSMM	muscle
26	chr5:99923200-99930400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:99928600-99929000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:99928600-99929000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:99928600-99929000	Enhancers	Psoas Muscle	Psoas
30	chr5:99928800-99929000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:99929000-99931400	Weak transcription	Psoas Muscle	Psoas
32	chr5:99929800-99930200	Enhancers	HUVEC	blood vessel
33	chr5:99930000-99930400	Enhancers	HSMMtube	muscle
34	chr5:99930000-99930800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr5:99930000-99930800	Enhancers	Osteobl	bone
36	chr5:99930200-99930400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:99930200-99930800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:99930200-99930800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:99930200-99931000	Enhancers	HSMM	muscle
40	chr5:99930200-99931000	Flanking Active TSS	HUVEC	blood vessel
41	chr5:99930400-99930600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:99930400-99931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:99930400-99931600	Active TSS	HSMMtube	muscle
44	chr5:99930600-99930800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:99930600-99930800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:99930600-99931000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:99930600-99931000	Enhancers	NHEK	skin
48	chr5:99930600-99931000	Enhancers	NHLF	lung
49	chr5:99930600-99931800	Flanking Active TSS	NH-A	brain
50	chr5:99930800-99931000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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